Nebraska Administrative Code › Topic - HEALTH AND HUMAN SERVICES SYSTEM › Title 181 - SPECIAL HEALTH PROGRAMS › Chapter 2 - SCREENING OF INFANTS FOR INHERITED AND CONGENITAL INFANT OR CHILDHOOD-ON-SET DISEASES › Section 181-2-002 - DEFINITIONS

Current through June 17, 2024
For purposes of these regulations, the following definitions are
	 hereby adopted.
002.01
ARGININOSUCCINIC ACIDEMIA (ASA).
A disorder of amino
  acid metabolism in which an enzyme defect in the urea cycle results in elevated
  ammonia and citrulline. If not identified and left untreated, infants develop
  failure to thrive, seizures, lethargy and coma, and later onset of intellectual
  disability.
002.02
BETA-KETOTHIOLASE DEFICIENCY (ALSO KNOWN AS MITOCHONDRIAL
  ACETOACETYL-CoA THIOLASE DEFICIENCY OR 3-KETOTHIOLASE DEFICIENCY OR
  BKT).
A disorder of organic acid metabolism in which an enzyme
  defect results in the accumulation of isoleucine and related metabolites. If
  not identified and left untreated, metabolic crisis may occur with coma or
  death, intellectual disability, cardiac abnormalities, and other physical
  problems.
002.03
BIOTINIDASE DEFICIENCY (BIOT).
A metabolic disease
  that results in an inability to recycle and conserve the vitamin biotin which,
  if not identified and left untreated, may lead to intellectual disability,
  seizures, hearing loss, and dermatitis.
002.04
CARNITINE UPTAKE DEFECT
  (CUD).
A disorder of fatty acid metabolism in which there is a
  defect in the transport of carnitine into the tissues. This prevents fatty acid
  metabolism and limits energy production. If not identified and left untreated,
  patients develop cardiomyopathy, fasting hypoglycemia, and muscle disease.
  (Carnitine Uptake Defect might not be detected during the immediate newborn
  period.)
002.05
CITRULLINEMIA (CIT).
A disorder of amino acid
  metabolism in which an enzyme defect in the urea cycle results in
  hyperammonemia and elevated citrulline. If not identified and left untreated,
  infants develop failure to thrive, vomiting, seizures, lethargy, coma, and
  later onset of intellectual disability.
002.06
ONFIRMATORY
  TEST.
A test or a panel of tests performed following a presumptive
  positive screening test which provides additional, more specific diagnostic
  information concerning the existence or non-existence of diseases screened for.
002.07
CONGENITAL
  ADRENAL HYPERPLASIA.
A genetic disorder which results in the
  adrenal glands producing too little or no cortisol, insufficient aldosterone,
  and too much androgen. If not identified and left untreated, this can result in
  classical salt-losing Congenital Adrenal Hyperplasia or an adrenal crisis that
  can result in sudden death.
002.08
CONGENITAL PRIMARY HYPOTHYROIDISM.
A disease
  characterized by a congenital deficiency or absence of thyroid hormone
  (thyroxine) which, if not identified and left untreated, may lead to
  intellectual disability and growth problems.
002.09
CUTOFF VALUE.
A value on a screening test for a specific disease which gives a high degree of
  probability that all newborns with a greater or lower value, depending on the
  test method, will not have the disease.
002.10
CYSTIC FIBROSIS
  (CF).
A genetic disorder in which mutations alter the structure,
  function, or production of a transmembrane chloride channel protein which in
  turn can affect the function of the lungs, upper respiratory tract,
  gastrointestinal tract, pancreas, liver, sweat glands, and genitourinary tract.
  Early diagnosis and treatment results in improved outcomes for affected
  patients.
002.11
DEPARTMENT.
The Department of Health and Human Services of the
  State of Nebraska.
002.12
GALACTOSEMIA (GALT).
A disease of galactose metabolism
  which, if not identified and left untreated, may lead to failure to thrive,
  vomiting, liver disease, cataracts, and mental retardation.
002.13
GLUTARIC ACIDEMIA TYPE I
  (GAI).
A disorder of organic acid metabolism in which an enzyme
  defect results in increased glutaric acid and its metabolites. If not
  identified and left untreated children develop metabolic acidosis, failure to
  thrive, mental retardation and sudden onset of seizures, spasticity and
  movement problems.
002.14
HEMOGLOBINOPATHIES (Hb SS, Hb S/(BETA) Th, Hb S/C).
A
  group of genetic disorders characterized by production of abnormal hemoglobin
  which may cause clinical disease including anemia or oxygen carrying
  difficulties.
002.15
HOMOCYSTINURIA (HCY).
A disorder of amino acid
  metabolism in which an enzyme defect results in increased methionine and
  homocystine. If not identified and left untreated, children can develop
  intellectual disability, vision problems, skeletal abnormalities, and
  strokes.
002.16
HOSPITAL
. Any facility defined under Neb. Rev. Stat.
  §
									71-419.
002.17
INSTITUTIONAL REVIEW BOARD
  (IRB).
An Institutional Review Board qualifying and complying with
  requirements in the Code of Federal Regulations Title 45 Part 46 Protection of
  Human Subjects, Effective July 14, 2009.
002.18
ISOVALERIC ACIDEMIA
  (IVA).
A disorder of amino acid metabolism in which an enzyme
  defect results in elevations of leucine and isovaleric acid. If not identified
  and left untreated, it can cause failure to thrive, metabolic acidosis,
  dehydration, hyperammonemia, and hypoglycemia.
002.19
LABORATORY.
A
  facility for the biological, microbiological, serological, chemical,
  immunological, hematological, biophysical, cytological, pathological or other
  examination of materials derived from the human body for the purpose of
  providing information for the diagnosis, prevention, or treatment of any
  disease or impairment of, or the assessment of the health of, human beings.
  These examinations also include procedures to determine, measure, or otherwise
  describe the presence or absence of various substances or organisms in the
  body. Facilities only collecting or preparing specimens (or both) or only
  serving as a mailing service and not performing testing are not considered
  laboratories.
002.20
LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (ALSO KNOWN AS
  3-HYDROXY LONG-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY OR LCHAD).
A disorder of fatty acid metabolism in which an enzyme defect results in
  metabolic derangement during periods of prolonged fasting. If not identified
  and left untreated, it can result in failure to thrive, hypoglycemia, liver
  disease, cardiomyopathy, and possibly death.
002.21
MAPLE SYRUP URINE DISEASE
  (MSUD).
A disorder of amino acid metabolism in which an enzyme
  defect allows leucine, isoleucine, and valine to accumulate to toxic levels. If
  not identified and left untreated, it can progress to intellectual disability,
  failure to thrive, seizures, coma, cerebral edema, and possibly
  death.
002.22
MEDIUM
  CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY (MCAD).
A disorder of
  fatty acid metabolism that results in an inability to metabolize medium-chain
  fatty acids which, if not identified and left untreated, under conditions of
  fasting may lead to hypoglycemia, seizures, developmental disability, and
  sudden death.
002.23
METHYLMALONIC ACIDEMIA (MUTASE DEFICIENCY OR MUT OR
  MMA).
A disorder of amino acid metabolism in which various related
  enzyme defects result in increased methylmalonic acid. If not identified and
  left untreated, it can result in failure to thrive, metabolic acidosis,
  dehydration, hyperammonemia, hypoglycemia, intellectual disability and possibly
  death.
002.24
METHYLMALONIC ACIDEMIA (CBL A AND B).
A disorder of
  vitamin B12 (cobalamin) and amino acid metabolism in which an enzyme defect
  results in increased methylmalonic acid and homocystine. If not identified and
  left untreated, it can result in failure to thrive, metabolic acidosis,
  seizures, anemia, intellectual disability, and possibly death.
002.25
MUCOPOLYSACCHARIDOSIS
  (MPS-I).
A storage disorder in which deficiency of a Lysosomal
  enzyme alpha-L-iduronidase results in accumulation of glycosaminoglycans in
  cells. If not identified and left untreated it can lead to damage to cells,
  tissue, and organs and early death.
002.26
MULTIPLE CARBOXYLASE
  DEFICIENCY (MCD).
A disorder of biotin vitamin metabolism in which
  an enzyme defect results in impaired biotin function leading to abnormal
  metabolism of amino acids, carbohydrates and lipids. If not identified and left
  untreated, infants develop metabolic acidosis, seizures, dermatitis, hearing
  loss, coma, intellectual disability, and possibly death.
002.27
NEWBORN SCREENING ADVISORY
  COMMITTEE (NBSAC) - APPROVED PROTOCOLS.
Follow-up practices
  recommended by the Newborn Screening Advisory Committee (NBSAC) and adopted by
  the Nebraska Newborn Screening Follow-up Program, to rule out or help diagnose
  conditions in response to screening results that are out-of-range. For most
  out-of-range results, only a repeat dried blood spot specimen is needed. For
  substantially out-of-range results, or results from serial screens that
  continue to be out-of-range, other confirmatory specimens and tests often with
  higher specificity and sensitivity to measure an analyte or analytes are
  usually recommended.
002.28
NEWBORN.
An infant who is 28 days old or
  less.
002.29
NEWBORN
  SCREENING.
A laboratory test applied to newborn specimens in a
  search for newborns with inherited or congenital infant-or childhood- on-set
  diseases. Screening will detect a high proportion of newborns with the disease
  (true positive). Some newborns who do not have the disease will be identified
  by the screening test as possibly affected (false positive).
002.30
NEWBORN SCREENING ADVISORY
  COMMITTEE.
A committee whose membership is determined by the
  Department's Chief Medical Officer which is comprised of a minimum of 15 and
  maximum of 25 stakeholders and representatives from but not limited to the
  following areas: Newborn and pediatric primary health care providers; medical
  and allied professionals from the sub-specialties associated with treatment for
  the disorders screened; clinical laboratorians; and consumers with technical,
  professional, or personal experience with newborn screening for congenital and
  inherited disorders.
002.31
PHENYLKETONURIA (PKU).
A disorder of amino acid
  metabolism in which an enzyme defect results in increased levels of
  phenylalanine. If not identified and left untreated, it may lead to
  intellectual disability and seizures.
002.32
POMPE DISEASE
  (PD).
A glycogen storage disease in which deficiency of a
  Lysosomal enzyme, acid alpha-glucosidase results in accumulation of glycogen in
  skeletal and cardiac muscle tissue. If not identified and left untreated, the
  severe infantile-onset form can be fatal in the first year of life. The
  childhood later onset form presents with a slower progression mainly affecting
  skeletal muscle.
002.33
PROPIONIC ACIDEMIA (PROP or PA).
A disorder of amino
  acid metabolism in which an enzyme defect results in increased propionic acid.
  If not identified and left untreated, it can result in failure to thrive,
  metabolic acidosis, vomiting, dehydration, hyperammonemia, intellectual
  disability, and death.
002.34
PHYSICIAN.
A person licensed to practice medicine and
  surgery or osteopathic medicine and surgery pursuant to the Medicine and
  Surgery Practice Act.
002.35
PRESUMPTIVE POSITIVE.
A screening test result that is
  above or below the cutoff value or outside the normal range or value determined
  by an algorithm for assigning an interpretation of presumptive positive,
  depending on the test method.
002.36
PUBLIC
  HEALTH.
The art and science dealing with the protection and
  improvement of community health by organized community effort and including
  preventive medicine and sanitary and social science.
002.37
PUBLIC HEALTH
  EMERGENCY.
The condition that requires the Governor to declare a
  state of public health emergency. An occurrence or imminent threat of an
  illness or health condition, caused by bioterrorism, epidemic or pandemic
  disease, or a novel and highly fatal infectious agent or biological toxin that
  poses a substantial risk of a significant number of human fatalities or
  incidents of permanent or long-term disability (World Health Organization
  (WHO)/Centers for Disease Control and Prevention (CDC), 2001). The declaration
  of a state of public health emergency permits the Governor to suspend state
  regulations or change the functions of state agencies, or both.
002.38
PUBLIC HEALTH
  RESEARCH.
Research intended to generate or contribute to
  generalizable knowledge to improve public health practice. Generalizable
  knowledge is new information that has relevance beyond the population or
  program from which it was collected. Intended benefits of the research project
  may or may not include study participants, but always extend beyond study
  participants, and usually to society. Data collected exceed requirements for
  care of the study participants or extend beyond the scope of the activity.
For purposes of defining public health research, "generalizable" does
	 not refer to the statistical concept of population estimation, or to the
	 traditional public health method of collecting information from a sample to
	 understand health in the sampled population. Holding public health activities
	 to a standard of studying every case in order to classify an activity as
	 non-research is not practical or reasonable.
002.39
RESIDUAL DRIED BLOOD
  SPOTS.
The portion of the initial or repeat dried blood spot
  specimen remaining, after all punches have been removed for testing of the
  specimen for newborn screening purposes.
002.40
SEVERE COMBINED IMMUNE
  DEFICIENCIES (SCIDs).
A group of rare congenital immune deficiency
  states that share a deficiency of T-cell function as their common thread.
  Deficiency of T-cell function prevents the appropriate coordination of the
  immune attack on a foreign invader. Effects of untreated disease leads to
  frequent infections, and some forms are fatal in early childhood.
002.41
SUBMITTER.
The person who sends the Collection and Reporting (CARE) Form to the testing
  laboratory for initial, repeat, or confirmatory screening tests, including, but
  not limited to, the hospital, the laboratory, or the physician.
002.42
TEST METHOD.
A laboratory examination which measures blood constituents associated with
  screened diseases.
002.43
TYROSINEMIA (TYR).
A disorder of amino acid metabolism
  in which various related enzyme defects result in elevation of tyrosine.
  Effects of untreated disease may include failure to thrive, liver failure, skin
  and eye lesions, developmental delay, or intellectual disability. (Tyrosinemia
  type 1 might not be detected during the immediate newborn period).
002.44
TRIFUNCTIONAL PROTEIN
  DEFICIENCY (TFP).
A disorder of fatty acid metabolism in which a
  genetic defect results in deficiency of 3 enzymes that act sequentially in
  fatty acid degradation. During periods of fasting, if not identified and left
  untreated, children can develop hypoglycemia, failure to thrive,
  cardiomyopathy, liver disease, and death.
002.45
VERY LONG-CHAIN ACYL-CoA
  DEHYDROGENASE DEFICIENCY (VLCAD).
A disorder of fatty acid
  metabolism in which an enzyme defect results in an inability to degrade
  long-chain fatty acids. If not identified and left untreated, it may lead to
  fasting hypoglycemia, liver disease, seizures, skeletal myopathy,
  cardiomyopathy, and sudden death.
002.46
X-LINKED
  ADRENOLEUKODYSTROPHY (X-ALD).
An inherited peroxisomal storage
  disorder which results in accumulation of very long chain fatty acids. If not
  identified and left untreated it can result in abnormal adrenal function and
  fatal neurological disease.
002.47
3-HYDROXY 3-METHYL GLUTARIC ACIDURIA (ALSO KNOWN AS
  3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY OR HMG).
A
  disorder of organic acid metabolism in which an enzyme defect results in
  elevation of leucine in the blood and impaired production of ketones. If not
  identified and left untreated, it can result in intellectual disability,
  metabolic acidosis, hypoglycemia, hyperammonemia, seizures, coma and
  death.
002.48
3-METHYLCROTONYL-CoA CARBOXYLASE DEFICIENCY (3MCC).
A
  disorder of amino acid metabolism in which an enzyme defect results in an
  inability to metabolize leucine. If not identified and left untreated, it can
  lead to vomiting, metabolic acidosis, apnea, hyptonia, seizures and possibly
  death.