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## Complete Summary

#### GUIDELINE TITLE

Task force guidelines handbook: EFNS guidelines on diagnosis and
management of fatty acid mitochondrial disorders.

#### BIBLIOGRAPHIC SOURCE(S)

Angelini C, Federico A, Reichmann H, Lombes A, Chinnery P, Turnbull D.
Task force guidelines handbook: EFNS guidelines on diagnosis and
management of fatty acid mitochondrial disorders. Eur J Neurol 2006
Sep;13(9):923-9. \[23 references\]
[PubMed](http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=16930355)

#### GUIDELINE STATUS

This is the current release of the guideline.

### COMPLETE SUMMARY CONTENT

 SCOPE\
 METHODOLOGY - including Rating Scheme and Cost Analysis\
 RECOMMENDATIONS\
 EVIDENCE SUPPORTING THE RECOMMENDATIONS\
 BENEFITS/HARMS OF IMPLEMENTING THE GUIDELINE RECOMMENDATIONS\
 QUALIFYING STATEMENTS\
 IMPLEMENTATION OF THE GUIDELINE\
 INSTITUTE OF MEDICINE (IOM) NATIONAL HEALTHCARE QUALITY REPORT
CATEGORIES\
 IDENTIFYING INFORMATION AND AVAILABILITY\
 DISCLAIMER

### SCOPE

#### DISEASE/CONDITION(S)

Lipid storage myopathies (LSMs), including:

-   Carnitine palmitoyltransferase II deficiency

-   Primary systemic carnitine deficiency

-   Primary muscle carnitine deficiency

-   Very long acyl-CoA-dehydrogenase deficiency

-   Trifunctional enzyme deficiency

-   Medium-chain acyl-CoA-dehydrogenase deficiency

-   Short-chain acyl-CoA-dehydrogenase deficiency

-   Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

#### GUIDELINE CATEGORY

Diagnosis\
Management\
Prevention\
Treatment

#### CLINICAL SPECIALTY

Endocrinology\
Family Practice\
Internal Medicine\
Medical Genetics\
Neurology\
Nutrition\
Pediatrics

#### INTENDED USERS

Dietitians\
Pharmacists\
Physicians

#### GUIDELINE OBJECTIVE(S)

To provide guidelines for diagnosis and management of fatty acid
mitochondrial disorders

#### TARGET POPULATION

Adults and children with fatty acid mitochondrial disorders

#### INTERVENTIONS AND PRACTICES CONSIDERED

**Diagnosis**

1.  Assessment of signs and symptoms

2.  Laboratory tests

**Management/Prevention/Treatment**

*General Interventions*

1.  Avoidance of fasting

2.  High carbohydrate, low fat diet with medium-chain triglycerides and
    reduced long-chain fats

*Carnitine Palmitoyltransferase II Deficiency*

1.  Prevention of myoglobinuric episodes (avoidance of strenuous
    exercise during fasting or cold)

2.  Intravenous infusion of glucose solution

*Muscle and Systemic Carnitine Deficiencies*

1.  L-carnitine supplementation

2.  Medium-chain triglyceride (MCT) diet

*Long and Medium-chain Acyl-CoA-dehydrogenase Deficiencies*

1.  L-carnitine supplementation

2.  Newborn screening

*Riboflavin-responsive multiple Acyl-CoA Dehydrogenase Defects*

Riboflavin supplementation

#### MAJOR OUTCOMES CONSIDERED

-   Effectiveness of treatment

-   Complications of fatty acid mitochondrial disorders

### METHODOLOGY

#### METHODS USED TO COLLECT/SELECT EVIDENCE

Hand-searches of Published Literature (Secondary Sources)\
Searches of Electronic Databases

#### DESCRIPTION OF METHODS USED TO COLLECT/SELECT THE EVIDENCE

The task force for metabolic disorders systematically searched the
MEDLINE database using key words, and examined textbooks and existing
guidelines. According to the guidance for the preparation of
neurological management by European Federation of Neurological Societies
(EFNS) Task Force, articles were included if they contained data, which
could be rated according to grades of recommendation for treatment
classified in terms of evidence-based medicine (see the \"Availability
of Companion Documents\" field in this summary).

#### NUMBER OF SOURCE DOCUMENTS

30 papers

#### METHODS USED TO ASSESS THE QUALITY AND STRENGTH OF THE EVIDENCE

Weighting According to a Rating Scheme (Scheme Given)

#### RATING SCHEME FOR THE STRENGTH OF THE EVIDENCE

**Evidence Classification Scheme for a Diagnostic Measure**

**Class I**: A prospective study in a broad spectrum of persons with the
suspected condition, using a \"gold standard\" for case definition,
where the test is applied in a blinded evaluation, and enabling the
assessment of appropriate tests of diagnostic accuracy

**Class II**: A prospective study of a narrow spectrum of persons with
the suspected condition, or a well-designed retrospective study of a
broad spectrum of persons with an established condition (by \"gold
standard\") compared to a broad spectrum of controls, where test is
applied in a blinded evaluation, and enabling the assessment of
appropriate tests of diagnostic accuracy

**Class III**: Evidence provided by a retrospective study where either
persons with the established condition or controls are of a narrow
spectrum, and where test is applied in a blinded evaluation

**Class IV**: Any design where test is not applied in blinded evaluation
OR evidence provided by expert opinion alone or in descriptive case
series (without controls)

**Evidence Classification Scheme for a Therapeutic Intervention**

**Class I**: An adequately powered prospective, randomized, controlled
clinical trial with masked outcome assessment in a representative
population or an adequately powered systematic review of prospective
randomized controlled clinical trials with masked outcome assessment in
representative populations. The following are required:

a.  Randomization concealment

b.  Primary outcome(s) is/are clearly defined

c.  Exclusion/inclusion criteria are clearly defined

d.  Adequate accounting for dropouts and crossovers with numbers
    sufficiently low to have minimal potential for bias

e.  Relevant baseline characteristics are presented and substantially
    equivalent among treatment groups or there is appropriate
    statistical adjustment for differences

**Class II**: Prospective matched-group cohort study in a representative
population with masked outcome assessment that meets a--e above or a
randomized, controlled trial in a representative population that lacks
one criteria a--e

**Class III**: All other controlled trials (including well-defined
natural history controls or patients serving as own controls) in a
representative population, where outcome assessment is independent of
patient treatment

**Class IV**: Evidence from uncontrolled studies, case series, case
reports, or expert opinion

#### METHODS USED TO ANALYZE THE EVIDENCE

Systematic Review

#### DESCRIPTION OF THE METHODS USED TO ANALYZE THE EVIDENCE

Review of patient data and published cases

#### METHODS USED TO FORMULATE THE RECOMMENDATIONS

Expert Consensus

#### DESCRIPTION OF METHODS USED TO FORMULATE THE RECOMMENDATIONS

Most guideline recommendations derived in this document are from case
reports (class IV evidence), as no large trials have been conducted in
fatty acid disorders. These guidelines reflect consensus opinions of
experts in the field (good practice points). The consensus was reached
analysing series of treated patients and in discussing pre-existing
guidelines.

#### RATING SCHEME FOR THE STRENGTH OF THE RECOMMENDATIONS

**Rating of Recommendations for a Diagnostic Measure**

**Level A rating** (established as useful/predictive or not
useful/predictive) requires at least one convincing class I study or at
least two consistent, convincing class II studies.

**Level B rating** (established as probably useful/predictive or not
useful/predictive) requires at least one convincing class II study or
overwhelming class III evidence.

**Level C rating** (established as possibly useful/predictive or not
useful/predictive) requires at least two convincing class III studies.

**Rating of Recommendations for a Therapeutic Intervention**

**Level A rating** (established as effective, ineffective, or harmful)
requires at least one convincing class I study or at least two
consistent, convincing class II studies.

**Level B rating** (probably effective, ineffective, or harmful)
requires at least one convincing class II study or overwhelming class
III evidence.

**Level C rating** (possibly effective, ineffective, or harmful)
requires at least two convincing class III studies.

**Good Practice Points** When only class IV evidence was available but
consensus could be reached the Task Force gives recommendations as good
practice points.

#### COST ANALYSIS

A formal cost analysis was not performed and published cost analyses
were not reviewed.

#### METHOD OF GUIDELINE VALIDATION

Peer Review

#### DESCRIPTION OF METHOD OF GUIDELINE VALIDATION

The guidelines were validated according to the European Federation of
Neurological Societies (EFNS) criteria (see \"Availability of Companion
Documents\" field in this summary).

### RECOMMENDATIONS

#### MAJOR RECOMMENDATIONS

The levels of evidence (class I-IV) supporting the recommendations and
ratings of recommendations (A-C, Good Practice Points) are defined at
the end of the \"Major Recommendations\" field.

**Carnitine Palmitoyltransferase (CPT) II Deficiency**

In the most typical presentations CPT II deficiency is seen in young
adults (see Table 1 below) experiencing episodes of muscle pain and
rhabdomyolysis triggered by prolonged exercise and cold.

**Table 1. Carnitine Palmitoyltransferase II (CPT II) Deficiency**

  -----------------------------------------------------------------------
  Young adults\
  Paroxysmal myoglobinuria\
  Residual: malonyl-CoA insensitive CPT activity\
  CPT gene is located in chromosome 1\
  Serine 113 to leucine is the most common missense mutation 60% cases
  (429C \> T)

  -----------------------------------------------------------------------

Preventing myoglobinuric episodes is important and this can be achieved
by avoiding strenuous exercise during fasting or cold. During an attack
5% of glucose solution is used as an alternative metabolic fuel.
According to published guidelines a standard treatment protocol for
myoglobinuria is intravenous infusion of hypotonic sodium chloride and
sodium bicarbonate (sodium chloride 110 mmol/l and bicarbonate 40
mmol/l) in 5% of glucose solution to which 10 g of mannitol per litre is
added in a 20% of solution. The solution should be infused into a young
adult of 75 kg weight at the rate of 12 l/day in order to obtain a
diuresis of 8 l/day and keep pH above 6.5. This therapeutic regimen will
control both hyperkalemia and acidosis and therefore might prevent acute
renal failure.

**Carnitine Transport Defects**

Primary L-carnitine deficiency syndromes are rare biochemical disorders
and can be classified on the basis of clinical and biochemical criteria
into muscle carnitine deficiency and systemic carnitine deficiency.

*Systemic Carnitine Deficiency*

Primary systemic carnitine deficiency is a well-recognized treatable
entity of childhood (see Table 2 below) characterized by progressive
cardiomyopathy, lipid storage myopathy (LSM) and attacks of
hypoglycaemia, hepatomegaly with Reye-like syndrome that may lead to
permanent brain damage.

**Table 2. Primary Systemic Carnitine Deficiency**

+-----------------------------------------------------------------------+
| Inheritance: autosomal recessive\                                     |
| Gene: OCTN2 organic cation transporter\                               |
| Clinical presentation                                                 |
|                                                                       |
| Progressive cardiomyopathy\                                           |
| Muscle weakness\                                                      |
| Fasting hypoglycaemia\                                                |
| Urine: normal organic acid pattern\                                   |
| Low total carnitine in plasma, urine and muscle\                      |
| Normal ratio carnitine/acyl-carnitines\                               |
| Molecular biology: several point mutations reported                   |
+-----------------------------------------------------------------------+

OCTN2, organic cation transporter 2

[Diagnosis]{.underline}

In several cases a defect of carnitine high-affinity transport organic
cation transporter 2 (OCTN2) gene has been demonstrated in cultured
fibroblasts and genomic DNA can be screened for mutations.

[Guidelines for Therapy]{.underline}

Carnitine supplementation corrects cardiomyopathy and other clinical
signs. In some cases this treatment might avoid cardiac transplant. The
L-carnitine dose may vary from 100 to 600 mg/kg/day on the basis of the
calculated carnitine depletion from muscle, liver, heart and kidney.
Individually adjusted dosing may require plasma level measurement. No
side-effects are noted for L-carnitine supplementation except occasional
diarrhoea or fishy body odour. In some cases a medium chain triglyceride
(MCT) diet may be added (**class IV evidence**).

*Muscle Carnitine Deficiency*

In primary muscle carnitine deficiency the clinical syndrome is confined
to skeletal muscle; the clinical features are episodes of fluctuating
muscle weakness, affecting mostly limb and neck muscles and severe
myalgia.

[Diagnostic Guidelines and Therapy]{.underline}

The patients show appropriate ketogenesis on fasting and on a high fat
diet. Biochemical features are low muscle carnitine (below 15%) and
absence of organic aciduria. Carnitine concentrations in the plasma and
liver are normal. There is *\'in vitro\'* stimulation by L-carnitine of
labelled palmitate and oleate oxidation.

Although much is known about mechanisms of carnitine transport, data on
muscle specific transport (low affinity) in human muscle carnitine
deficiency cases are still scanty. In a childhood case, an abnormal low
affinity carnitine transport was found in cultured muscle. This could be
due to either a delayed maturation or an abnormal carnitine carrier
protein. The available evidence indicates that low muscle content is the
result of a genetic defect of the sarcolemmal carnitine transporter.
Therefore, muscle carnitine deficiency could be caused by an abnormal
low-affinity carrier or by a low amount of sarcolemmal carnitine
carrier. It is distinguished from carnitine insufficiency by the absence
of acyl-carnitine elevation in plasma or urine.

Treatment with L-carnitine replacement and MCT diet has been successful
in a number of cases (**class IV evidence**).

**Defects of Beta-Oxidation**

Defects of fatty acids oxidation may affect muscle alone or in
conjunction with signs in other tissues (i.e. liver and heart \[see
Table 3 in the original guideline document\]). For most of the different
enzyme deficiencies the clinical features are similar. In some patients
this is reflected by exercise-induced muscle pain and rhabdomyolysis.
The diagnosis is often suggested by characteristic patterns of organic
acids excreted in the urine, which are specific for various enzymatic
blocks.

Enzymatic and immunochemical analysis performed in fibroblasts and/or in
muscle and liver mitochondria will confirm the diagnosis. (See also
\"Guidelines for laboratory diagnosis of fatty acid oxidation defects\"
in the original guideline document.)

Inborn errors of beta-oxidation are:

1.  Very long-chain acyl-CoA deficiency (VLCAD)

2.  Trifunctional enzyme deficiency

3.  Medium-chain acyl-CoA deficiency (MCAD)

4.  Short-chain acyl-CoA deficiency (SCAD)

5.  Riboflavin-responsive disorders of beta-oxidation

*Very Long-Chain Acyl-CoA-Dehydrogenase Deficiency*

Very long-chain acyl-CoA deficiency has mostly been described in
children. The patients reported so far can be grouped according to their
clinical course: the first group has onset in the first few months of
life and shows a high mortality; the second group is characterized by
recurrent episodes of coma after fasting, but presents no
cardiomyopathy; the third group presents with late-onset rhabdomyolysis
and myalgia after muscle exercise.

*Trifunctional Enzyme Deficiency*

The disease is inherited as an autosomal recessive trait. Onset of
symptoms is in the first year of life, characterized by intermittent
hypoglycaemia, lethargy, and coma. The typical presentation is a
progressive lethargy, evolving into coma during a fasting or during a
febrile episode associated with vomiting and diarrhoea that induces a
catabolic state. Hepatomegaly, cardiomyopathy and muscle weakness are
usually observed.

*Medium-Chain Acyl-CoA-Dehydrogenase Deficiency*

Medium-chain acyl-CoA deficiency is the most common error of fatty
oxidation found in the US, UK, and Northern Europe. It is manifested by
a recurrent syndrome of somnolence, vomiting, coma, hypoglycaemia, fatty
infiltration of the liver, and dicarboxylic aciduria. The crises are
often precipitated by intercurrent infections. Patients cannot oxidize
the medium-chain fatty acids (C12 to C6). The disorder becomes life
threatening during episodes of stress or fasting (see Table 4 below),
which result in decreased caloric intake or increased catabolism.

**Table 4. Medium-chain Acyl-CoA-dehydrogenase Deficiency**

  -----------------------------------------------------------------------
  Children\
  Reye-like syndrome\
  Fasting hypoglycaemia, non-ketotic\
  Episodes of coma\
  Low total plasma carnitine\
  Decreased tissue carnitine\
  Decreased octanoic oxidation in fibroblasts\
  Medium-chain dicarboxylic aciduria\
  Chromosome lp3l\
  Common mutation 329 lysine to glutamic acid 90% of cases (986 A \> G,
  K304E)

  -----------------------------------------------------------------------

[Treatment Recommendation]{.underline}

The treatment is similar in long-chain beta-hydroxy
acyl-CoA-dehydrogenase (LCHAD) and medium-chain acyl-CoA-dehydrogenase
(MCAD) deficiency: fasting and long intervals between meals should be
avoided; a high-carbohydrate, low-fat diet should be administered and
L-carnitine supplementation can be useful in preventing secondary
carnitine insufficiency (**class IV evidence**). Prevention is
important, considering the high incidence of the disease (1/8930 in a
newborn screening programme in Pennsylvania) and the good prognosis in
patients under adequate dietary control. The best prevention is the
identification of the patients during the asymptomatic period, possibly
at birth. Screening of all newborns can be achieved by searching for the
typical metabolites in the urine.

*Short- Chain Acyl-CoA-Dehydrogenase Deficiency (SCAD)*

Few patients with SCAD deficiency have been described. SCAD deficiency
is associated with different clinical phenotypes: a severe infantile
form and a late-onset myopathic picture.

*Riboflavin-Responsive Multiple Acyl-CoA-Dehydrogenase Defects (RR-MAD)*

RR-MAD is a relatively common LSM presenting in adult life with
fluctuating episodes of profound weakness, associated with carnitine
insufficiency and glutaric aciduria and usually underdiagnosed, that
responds dramatically to riboflavin (see Table 5 below).

**Table 5. Riboflavin-responsive Multiple Acyl-CoA-dehydrogenase
Deficiency**

  -----------------------------------------------------------------------
  Myopathic form\
  Adult onset\
  Lipid storage myopathy\
  Low SCAD, MCAD\
  Low free carnitine, increased acyl-carnitines, glutaric aciduria type
  2\
  Riboflavin responsive

  -----------------------------------------------------------------------

SCAD, short-chain acyl-CoA deficiency; MCAD, medium-chain acyl-CoA
deficiency

[Treatment Recommendations]{.underline}

It is important to recognize these patients as they improve after
riboflavin treatment (100--200 mg/day). Several cases of LSM-associated
beta-oxidation defects have been reported, because of multiple
acyl-CoA-dehydrogenase deficiency that was riboflavin responsive
(**class IV evidence**).

Evidence that a biochemical defect involving the oxidation of
short-chain fatty acids causes a deficiency of both short-chain acyl-CoA
dehydrogenase (SCAD), MCAD and flavin adenine nucleotide (FAD) and
flavin mononucleotide (FMN) cofactor depletion in biopsied muscle
mitochondria should be sought in most cases, especially in those who are
riboflavin responsive.

**Good Practice Points for Treatment of Fatty Acid Disorders**

The main caution in defects of mitochondrial beta-oxidation is the
avoidance of fasting (**class IV evidence**). By not allowing patients
in such disorders to become dependent for energy needs on
beta-oxidation, the accumulation of toxic intermediate metabolites is
avoided and development of most critical symptoms is minimized. Fat
consumption should be restricted to 25% of total calories and have
reduced amount of long-chain fatty acid (LCFA) (**class IV evidence**).
Increased caloric intake from carbohydrates may be necessary during
intercurrent illness because of increased metabolic demands on the body.
A low-fat/high-carbohydrate diet is beneficial in reducing
rhabdomyolytic episodes in several disorders of fatty acid metabolism
including CPT II deficiency and trifunctional enzyme deficiency. The
current dietary treatment of LCFAs defects (high carbohydrate with
medium-even-chain triglyceride and reduced long-chain fats) is based on
evidence provided by expert opinion alone or by descriptive case series
without controls. It is difficult to perform double-blind studies to
prevent cardiomyopathy, rhabdomyolysis and muscle weakness. A possible
alternative diet has been proposed by replacing dietary
medium-even-chain fatty acids by medium-odd-chain fatty acids, or by
precursors of acetyl-CoA such as by the anaplerotic effect of propionyl-
CoA\* to restore energy production and improve cardiac and skeletal
muscle function.

\*The anaplerotic capacity of propionyl-CoA refers to its capacity to
provide the formation of methylmalonyl-CoA and energy to the Krebs
cycle, because it is a precursor of succinyl-CoA, a citric acid cycle
intermediate.

**[Definitions]{.underline}**:

**Evidence Classification Scheme for a Diagnostic Measure**

**Class I**: A prospective study in a broad spectrum of persons with the
suspected condition, using a \"gold standard\" for case definition,
where the test is applied in a blinded evaluation, and enabling the
assessment of appropriate tests of diagnostic accuracy

**Class II**: A prospective study of a narrow spectrum of persons with
the suspected condition, or a well-designed retrospective study of a
broad spectrum of persons with an established condition (by \"gold
standard\") compared to a broad spectrum of controls, where test is
applied in a blinded evaluation, and enabling the assessment of
appropriate tests of diagnostic accuracy

**Class III**: Evidence provided by a retrospective study where either
persons with the established condition or controls are of a narrow
spectrum, and where test is applied in a blinded evaluation

**Class IV**: Any design where test is not applied in blinded evaluation
OR evidence provided by expert opinion alone or in descriptive case
series (without controls)

**Evidence Classification Scheme for a Therapeutic Intervention**

**Class I**: An adequately powered prospective, randomized, controlled
clinical trial with masked outcome assessment in a representative
population or an adequately powered systematic review of prospective
randomized controlled clinical trials with masked outcome assessment in
representative populations. The following are required:

a.  Randomization concealment

b.  Primary outcome(s) is/are clearly defined

c.  Exclusion/inclusion criteria are clearly defined

d.  Adequate accounting for dropouts and crossovers with numbers
    sufficiently low to have minimal potential for bias

e.  Relevant baseline characteristics are presented and substantially
    equivalent among treatment groups or there is appropriate
    statistical adjustment for differences

**Class II**: Prospective matched-group cohort study in a representative
population with masked outcome assessment that meets a--e above or a
randomized, controlled trial in a representative population that lacks
one criteria a--e

**Class III**: All other controlled trials (including well-defined
natural history controls or patients serving as own controls) in a
representative population, where outcome assessment is independent of
patient treatment

**Class IV**: Evidence from uncontrolled studies, case series, case
reports, or expert opinion

**Rating of Recommendations for a Diagnostic Measure**

**Level A rating** (established as useful/predictive or not
useful/predictive) requires at least one convincing class I study or at
least two consistent, convincing class II studies.

**Level B rating** (established as probably useful/predictive or not
useful/predictive) requires at least one convincing class II study or
overwhelming class III evidence.

**Level C rating** (established as possibly useful/predictive or not
useful/predictive) requires at least two convincing class III studies.

**Rating of Recommendations for a Therapeutic Intervention**

**Level A rating** (established as effective, ineffective, or harmful)
requires at least one convincing class I study or at least two
consistent, convincing class II studies.

**Level B rating** (probably effective, ineffective, or harmful)
requires at least one convincing class II study or overwhelming class
III evidence.

**Level C rating** (possibly effective, ineffective, or harmful)
requires at least two convincing class III studies.

**Good Practice Points** When only class IV evidence was available but
consensus could be reached the Task Force gives recommendations as good
practice points.

#### CLINICAL ALGORITHM(S)

None provided

### EVIDENCE SUPPORTING THE RECOMMENDATIONS

#### TYPE OF EVIDENCE SUPPORTING THE RECOMMENDATIONS

The type of supporting evidence is identified and graded for elected
recommendations (see \"Major Recommendations\" field).

### BENEFITS/HARMS OF IMPLEMENTING THE GUIDELINE RECOMMENDATIONS

#### POTENTIAL BENEFITS

Appropriate diagnosis and management of fatty acid mitochondrial
disorders

#### POTENTIAL HARMS

No side-effects are noted for L-carnitine supplementation except
occasional diarrhea or fishy body odour.

### QUALIFYING STATEMENTS

#### QUALIFYING STATEMENTS

This guideline provides the view of an expert task force appointed by
the Scientific Committee of the European Federation of Neurological
Societies (EFNS). It represents a peer-reviewed statement of minimum
desirable standards for the guidance of practice based on the best
available evidence. It is not intended to have legally binding
implications in individual cases.

### IMPLEMENTATION OF THE GUIDELINE

#### DESCRIPTION OF IMPLEMENTATION STRATEGY

The European Federation of Neurological Societies has a mailing list and
all guideline papers go to national societies, national ministries of
health, World Health Organisation, European Union, and a number of other
destinations. Corporate support is recruited to buy large numbers of
reprints of the guideline papers and permission is given to sponsoring
companies to distribute the guideline papers from their commercial
channels, provided there is no advertising attached.

### INSTITUTE OF MEDICINE (IOM) NATIONAL HEALTHCARE QUALITY REPORT CATEGORIES

#### IOM CARE NEED

Living with Illness\
Staying Healthy

#### IOM DOMAIN

Effectiveness

### IDENTIFYING INFORMATION AND AVAILABILITY

#### BIBLIOGRAPHIC SOURCE(S)

Angelini C, Federico A, Reichmann H, Lombes A, Chinnery P, Turnbull D.
Task force guidelines handbook: EFNS guidelines on diagnosis and
management of fatty acid mitochondrial disorders. Eur J Neurol 2006
Sep;13(9):923-9. \[23 references\]
[PubMed](http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=16930355)

#### ADAPTATION

Not applicable: The guideline was not adapted from another source.

#### DATE RELEASED

2006 Sep

#### GUIDELINE DEVELOPER(S)

European Federation of Neurological Societies - Medical Specialty
Society

#### SOURCE(S) OF FUNDING

European Federation of Neurological Societies

#### GUIDELINE COMMITTEE

European Federation of Neurological Societies Task Force on Diagnosis
and Management of Fatty Acid Mitochondrial Disorders

#### COMPOSITION OF GROUP THAT AUTHORED THE GUIDELINE

*Task Force Members*: C. Angelini, Department of Neurology, University
of Padova, Padova, Italy; A. Federico, Department of Neurological and
Behavioural Sciences, University of Siena, Siena, Italy; H. Reichmann,
Neurologischen Universitaetsklinik Universitaetsklinikum Carl Gustav
Carus der Technischen Universität Dresden, Dresden, Germany; A. Lombes,
Unite de Recherche INSERM 153, Hôpital de la Salpétrière, Paris, France;
P. Chinnery, Department of Neurology, The University of Newcastle upon
Tyne, Newcastle upon Tyne, UK; D. Turnbull, Department of Neurology, The
University of Newcastle upon Tyne, Newcastle upon Tyne, UK

#### FINANCIAL DISCLOSURES/CONFLICTS OF INTEREST

This paper was done as a part of a European Biobank Network. The authors
have no conflict of interests with guideline recommendations.

#### GUIDELINE STATUS

This is the current release of the guideline.

#### GUIDELINE AVAILABILITY

Electronic copies: Available to registered users from the [European
Federation of Neurological Societies Web
site](http://www.efns.org/content.php?pid=142).

Print copies: Available from Dr Corrado Angelini, Department of
Neurology, University of Padova, Padova, Italy; Phone: +39 049 821 3625;
Fax: +39 049 875 1770; E-mail: <corrado.angelini@unipd.it>

#### AVAILABILITY OF COMPANION DOCUMENTS

The following are available:

-   Brainin M, Barnes M, Baron JC, Gilhus NE, Hughes R, Selmaj K,
    Waldemar G; Guideline Standards Subcommittee of the EFNS Scientific
    Committee. Guidance for the preparation of neurological management
    guidelines by EFNS scientific task forces -- revised
    recommendations 2004. Eur J Neurol. 2004 Sep;11(9):577-81.
    Electronic copies: Available in Portable Document Format (PDF) from
    the [European Federation of Neurological Societies Web
    site](http://www.efns.org/files/guideline_23.pdf).

-   Guideline papers. European Federation of Neurological Societies.
    Electronic copies: Available from the [European Federation of
    Neurological Societies Web
    site](http://www.efns.org/content.php?pid=141).

#### PATIENT RESOURCES

None available

#### NGC STATUS

This NGC summary was completed by ECRI on April 10, 2007. The
information was verified by the guideline developer on May 18, 2007.

#### COPYRIGHT STATEMENT

This NGC summary is based on the original guideline, which is subject to
the Blackwell-Synergy copyright restrictions.

### DISCLAIMER

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© 1998-2008 National Guideline Clearinghouse

Date Modified: 11/3/2008