natgillin/translations-raw huggingface dataset:
Malta Boehringer Ingelheim Ltd.
Boehringer Ingelheim Comm. V.
Du kan finde yderligere information om CYMBALTA på Det europæiske Lægemiddelagenturs (EMEAs) hjemmeside http: // www. emea. europa. eu /.
Detailed information on this medicine is available on the European Medicines Agency (EMEA) web site: http: / /www. emea. europa. eu.
Homocystinuri er en arvelig (genetisk) sygdom, hvor aminosyren methionin ikke kan nedbrydes fuldstændigt i organismen.
Homocystinuria is an inherited (genetic) disease where the amino acid methionine cannot be broken down completely by the body.
Symptomerne ved homocystinuri er blodpropper, knogleskørhed, skeletforandringer, ektopi (forkert lejring) af øjets linse og mental retardering.
Symptoms of homocystinuria include thrombosis (formation of blood clots in the blood vessels), weakness of the bones, abnormalities of the skeleton, ectopia lentis (a disorder where the lens of the eye is in the wrong position) and mental retardation.
Cystadane anvendes til patienter med alle tre former for homocystinuri, der skyldes mangel på de stoffer, der nedbryder methionin ("cystathionin- beta- syntase" eller "5, 10- methylentetrahydrofolatreduktase") eller defekter i kobalamin- kofaktorstofskiftet.
Cystadane is used in patients with all three known types of homocystinuria, caused by a lack of the substances required for the breakdown of methionine (‘ cystathionine beta-synthase’ [CBS] or ‘ 5,10- methylene-tetrahydrofolate reductase’ [MTHFR]), or by defects in ‘ cobalamin cofactor metabolism’ (cbl).
Da homocystinuri er sjælden, blev Cystadane udpeget som "lægemiddel til sjældne sygdomme" den 9. juli 2001.
Because the number of patients with homocystinuria is low, the disease is considered ‘ rare’, and Cystadane was designated an ‘ orphan medicine ’ (a medicine used in rare diseases) on 9 July 2001.
Man opnår imidlertid ikke større virkning ved at øge hyppigheden til mere end to gange dagligt eller dosis til over 150 mg pr. kg legemsvægt pr. dag.
The dose for children can be adjusted depending on their response to treatment (monitored by measuring the level of homocysteine in the blood), but taking Cystadane more than twice a day or in doses above 150 mg per kilogram body weight does not improve its benefit.
(44- 20) 74 18 84 00 Fax (44- 20) 74 18 84 16 E- mail: mail@ emea. europa. eu http: // www. emea. europa. eu ©EMEA 2007 Reproduction and/ or distribution of this document is authorised for non commercial purposes only provided the EMEA is acknowledged Hvordan virker Cystadane?
(44-20) 74 18 84 00 Fax (44-20) 74 18 84 16 E-mail: mail@emea. europa. eu http: / /www. emea. europa. eu ©EMEA 2007 Reproduction and/ or distribution of this document is authorised for non commercial purposes only provided the EMEA is acknowledged How does Cystadane work?
Ved homocystinuri nedsætter betain homocysteinindholdet i blodet ved at fremme en reaktion, der kaldes methylering, hvorved homocystein tilbagedannes til methionin.
In homocystinuria, betaine reduces homocysteine levels in the blood by facilitating a reaction in the body called ‘ methylation’, which converts homocysteine back into methionine.
Hos patienter, der fik Cystadane, mindskedes homocystein- koncentrationen tilsyneladende mere end hos ubehandlede patienter.
Patients taking Cystadane appeared to have greater reductions in homocysteine levels than untreated patients.
Dette var forbundet med bedring i symptomerne fra hjerte- karsystemet og nervesystemets udvikling hos omkring tre fjerdedele af de patienter, der fik Cystadane.
This was associated with a reported improvement in symptoms affecting the cardiovascular system (heart and blood vessels) and the development of the nervous system in around three quarters of the patients taking Cystadane.
Udvalget for Humanmedicinske Lægemidler (CHMP) konkluderede, at lægemidlet, selvom der kun foreligger få systematiske undersøgelser med Cystadane, er et værdifuldt supplement til de eksisterende midler mod homocystinuri, f. eks. vitamintilskud og særlig diæt.
The Committee for Medicinal Products for Human Use (CHMP) concluded that, although there were few systematic studies of Cystadane, the medicine is useful when added to existing treatments for homocystinuria, such as vitamin supplementation and using a special diet.
Udvalget konkluderede, at fordelene ved Cystadane opvejer risiciene, når det anvendes i henhold til indikationen som tillægsbehandling ved homocystinuri.
The committee decided that Cystadane’ s benefits outweighed its risks in the adjunctive treatment of homocystinuria, when it is used according to its indication.
Europa- Kommissionen udstedte en markedsføringstilladelse med gyldighed i hele Den Europæiske Union for Cystadane til Orphan Europe SARL den 15. februar 2007.
The European Commission granted a marketing authorisation valid throughout the European Union for Cystadane to Orphan Europe SARL on 15 February 2007.
Registreringen af udpegelsen af Cystadane til lægemiddel til sjældne sygdomme kan ses her.
The record of Cystadane’ s designation as an orphan medicine is available here.
Dette sammendrag blev sidst ajourført i 01- 2007.
This summary was last updated in 01-2007.
EU- nummer EU/ 1/ 06/ 379/ 001
EU/ 1/ 06/ 379/ 001
Særnavn Cystadane
Cystadane
Styrke 1g
1g
Indgivelsesvej Oralt brug
Oral use
Indhold 180 g
180 g
Paknings- størrelse 1 flaske + 3 måleskeer (1g, 150mg, 100mg)
1 bottle+3 measuring spoons (1g,150mg, 100mg)
Cystadene 1 g/ g oralt pulver.
Cystadane 1 g oral powder
De tre måleskeer svarer til 1 g, 150 mg og 100 mg betain, vandfri.
Three measuring spoons dispense 1 g, 150 mg and 100 mg of betaine anhydrous.
6. 1.
For full list of excipients, see section 6.1.
Hvidt frit strømmende pulver.
Oral powder White free flowing powder.
Adjuverende behandling af homocystinuria, hvilket inkluderer mangler eller defekter i: • Cystationin beta- syntase (CBS), • 5, 10- metylen- tetrahydrofolat reduktase (MTHFR), • cobalamin cofaktor metabolismen (cbl).
Adjunctive treatment of homocystinuria, involving deficiencies or defects in: • cystathionine beta-synthase (CBS), • 5,10-methylene-tetrahydrofolate reductase (MTHFR), • cobalamin cofactor metabolism (cbl).
Den anbefalede totale daglige dosis hos voksne og hos pædiatriske patienter over 10 år er 6 g per dag administreret oralt, delt på doser af 3 g to gange om dagen.
The recommended total daily dose in adult and paediatric patients over 10 years of age is 6 g per day administered orally in divided doses of 3 g two times per day.
Dog kan dosistitrering foretrækkes hos pædiatriske patienter.
However, dose titration may be preferable in paediatric patients.
Den homocysteinsænkende effekt øges ikke ved at øge hyppigheden til mere end to gange dagligt og/ eller dosis til over 150 mg/ kg/ dag.
In paediatric patients less than 10 years of age, the usual effective dose regimen is 100 mg/ kg/ day given in 2 doses daily; increasing the frequency above twice daily and/ or the dose above 150 mg/ kg/ day does not improve the homocysteine-lowering effect.
Nedsat nyrefunktion eller leverfunktion Erfaring med betainbehandling hos patienter med nedsat nyrefunktion eller leversteatose, som ikke skyldes alkohol, har vist at det ikke er nødvendigt at tilpasse den homocysteinsænkende effekt.
Use in hepatic or renal impairment Experience with betaine therapy in patients with renal insufficiency or non-alcoholic hepatic steatosis has demonstrated no need to adapt the dose regimen of Cystadane.
1 g, 150 mg og 100 mg betain, vandfri.
Three measuring spoons are provided which dispense either 100 mg, 150 mg or 1 g of betaine anhydrous.
Det anbefales at tage en toppet skefuld ud af beholderen og at stryge en genstand med en glat overflade, fx en kniv, henover kanten af måleskeen.
It is recommended that a heaped measuring spoon is removed from the container and a flat surface e. g. base of a knife is drawn across the top of the measure.
Den lille måleske giver 100 mg, den midterste måleske giver 150 mg og den store måleske giver 1 g betain, vandfri.
This will give the following doses: small measure 100 mg, middle size measure 150 mg and large measure 1 g of betaine anhydrous.
2 Overvågning af behandlingen Målet med behandlingen er at holde plasma niveauerne af totalt homocystein under 15 µM eller så lavt som muligt.
2 The aim of treatment is to keep plasma levels of total homocysteine below 15 µM or as low as possible.
Overfølsomhed over for det aktive stof.
Hypersensitivity to betaine.
Der er rapporter om sjældne tilfælde af alvorligt cerebralt ødem og hypermethioninæmi i perioden mellem to uger til 6 måneder efter påbegyndelse af betainbehandling (se pkt.
Complete recovery was seen after treatment discontinuation:
Efter ophør af behandlingen blev der set fuldkommen remission: • Plasma methionin skal overvåges ved behandlingsstart og periodevis herefter.
- Plasma methionine level should be monitored, at start of treatment and periodically thereafter.
Plasma methionin - koncentrationen skal holdes under 1000 µM. • Hvis der opstår nogen symptomer på cerebralt ødem så som hovedpine om morgenen med kvalme og/ eller synsforstyrrelser, skal plasma methionin- niveauet og overholdelse af diæten tjekkes og behandlingen med Cystadane afbrydes. • Hvis der genopstår symptomer på cerebralt ødem efter at behandlingen er genintroduceret, så skal betainbehandling afbrydes permanent.
The plasma methionine concentrations should be kept below 1000 µM.
For at minimere risikoen for potentielle lægemiddelinteraktioner, anbefales det, at man lader 30 minutter gå mellem indtagelsen af betain og af andre aminosyrerblandinger og/ eller lægemidler, der indeholder vigabatrin og GABA- analoger (se pkt.
appear, plasma methionine level and compliance to the diet should be checked and treatment with Cystadane interrupted.
4. 5).
should be discontinued indefinitely.
Baseret på in vitro- data er det muligt, at betain interagerer med aminosyrerblandinger og lægemidler, der indeholder vigabatrin og GABA- analoger.
Based on in vitro data, betaine might interact with amino acids mixtures and medicinal products containing vigabatrin and GABA analogues.
Graviditet Data om et begrænset antal eksponerede graviditeter (7) viser, at betain ikke medfører uventede hændelser ved graviditet eller fostrets/ det nyfødte barns sundhed.
Pregnancy Data on a limited number (7) of exposed pregnancies indicate no adverse event of betaine on pregnancy or on the health of the foetus/ newborn child.
Under graviditet vil administration af betain i tillæg til pyridoxin, folinsyre, antikoagulantia og diæt under nøje overvågning af plasma homocystein være foreneligt med et godt resultat for moderen og fosteret.
During pregnancy, administering betaine in addition to pyridoxine, folate, anticoagulant and diet under close monitoring of plasma homosysteine would be compatible with good maternal and foetal outcomes.
Amning Det vides ikke, om betain udskilles i modermælken (selvom det metaboliske substrat, kolin, forekommer i store mængder i human mælk).
Breast-feeding It is not known whether betaine is excreted in human milk (although its metabolic precursor, choline, occurs at high levels in human milk).
4. 8 Bivirkninger
3 4.8 Undesirable effects
1000 patienter.
Experience derived from exposure to betaine in about 1,000 patients.
3 < 1/ 100), sjælden (≥1/ 10. 000 til, < 1/ 1. 000) og meget sjælden (< 1/ 10. 000).
Reported adverse reactions are listed below, by system organ class and by frequency.
Inden for hver enkelt frekvensgruppe er bivirkningerne opstillet med de alvorligste bivirkninger først.
Frequencies are defined as: very common (≥ 1/ 10), common (≥ 1/ 100, < 1/ 10), uncommon (≥ 1/ 1,000, < 1/ 100), rare (≥ 1/ 10,000, < 1/ 1,000), very rare (< 1/ 10,000).
Stofskiftesygdomme og ernæringsbetingede sygdomme
Within each frequency grouping, undesirable effects are presented in order of decreasing seriousness.
Anoreksi.
Metabolism and nutrition disorders Psychiatric disorders
Uro, depression, irritabilitet, forstyrrelse af personligheden, søvnforstyrrelser.
Uncommon: anorexia Uncommon: agitation, depression, irritability, personality disorder, sleep disturbed
Sygdomme i nervesystemet Gastrointestinale sygdomme
Nervous system disorders Gastrointestinal disorders
Tandproblemer, diaré, glossitis, kvalme, ubehag i maven, opkastning.
Uncommon: brain oedema* Uncommon: dental disorders, diarrhoea, glossitis, nausea, stomach discomfort, vomiting
Sygdomme i hud og subkutane væv Sygdomme i nyre og urinveje Undersøgelser
Skin and subcutaneous tissue disorders Renal and urinary disorder Investigations
alvorligt cerebralt ødem og hypermethioninæmi i perioden
Uncommon: hair loss, hives, skin odour abnormal Uncommon: urinary incontinence Very common: blood methionine increased*
Efter ophør af behandlingen blev der set fuldkommen remission.
*Uncommon cases of severe cerebral oedema and hypermethioninemia were reported within 2 weeks to 6 months of starting betaine therapy, with complete recovery after treatment discontinuation.
Hos disse patienter blev der også observeret store stigninger af plasma- methionin på mellem 1000 og 3000 µM.
High increases in plasma methionine levels in a range from 1,000 to 3,000 µM were noted in these patients.
Eftersom der også er rapporter om cerebralt ødem hos patienter med hypermethioninæmi som følge af betainbehandling, har det været foreslået som en mulig årsag til cerebralt ødem.
As cerebral oedema has also been reported in patients with hypermethioninemia, secondary hypermethioninemia due to betaine therapy has been postulated as a possible mechanism of action.
4. 4.
For specific recommendations, refer to section 4.4.
Fordøjelsesorganer og stofskifte, andre stofskiftesygdomme, ATC - kode:
Alimentary tract and metabolism product, ATC code:
A16AA06
A16A A06.
Det er påvist, at betain sænker plasma homocystein- niveauerne i tre typer af homocysteinuria, CBS - mangel, MTHFR- mangel, og cbl- deffekt.
CBS deficiency; MTHFR deficiency and cbl defect.
Betain virker som en methylgruppe- donor i remethyleringen af homocystein til methionin hos patienter med homocysteinuria.
Betaine acts as a methyl group donor in the remethylation of homocysteine to methionine in patients with homocystinuria.
Som et resultat heraf skulle plasmaniveauerne af homocystein falde til 20- 30% af niveauet før behandlingen hos disse patienter.
As a result, plasma levels of homocysteine should decrease in these patients, to 20-30% of pre-treatment levels.
Forhøjede homocystein- plasmaniveauer er associeret med kardiovakulære hændelser så som trombose, osteoporose, skeletforandringer og linsedislokation.
Elevated homocysteine plasma levels are associated with cardiovascular events such as thrombosis, osteoporosis, skeletal abnormalities, and optic lens dislocation.
I observationsstudier har der været rapporteret klinisk bedring (kardiovaskulær og neuronal udvikling) af den behandlende læge hos 75% af patienterne, som tog betain.
In observational studies, clinical improvement (cardiovascular and neurodevelopmental) was reported by the treating physician in about 75% of patients taking betaine.
I de fleste tilfælde gjorde tilføjelsen af betain, at plasma- homocystein- niveauet blev sænket yderligere.
In most cases, adding betaine resulted in a further reduction in plasma homocysteine level.
Det er muligt, at der på grund af de alsidige behandlingsformer til disse patienter (diæt, medicin og understøttende behandling) er en overvurderet kliniske effekt af betainbehandlingen.
It is likely that due to the multiple nature of therapy (dietary, pharmaceutical, supportive) in these patients, there may be an element of overestimation in the clinical effects of betaine treatment.
Opdages homocysteinuria sent på det symptomatiske stadium, kan det medføre morbiditet som følge af irreversible skader på bindevævet (oftalmologisk, skelet), som ikke kan korrigeres med videre behandling.
Late detection of homocystinuria in symptomatic state is responsible for residual morbidity due to irreversible damage to connective tissue (ophtalmological, skeletal) that can not be corrected by further therapy.
Hos patienter, der mangler CBS, og som ikke har
4 Betaine has also been shown to increase plasma methionine and S-adenosyl methionine (SAM) levels in patients with MTHFR deficiency and cbl defects.
4 diætrestriktioner mht. methionin, er der observeret en øget udskillelse af methionin.
In CBS-deficient patients without dietary restriction of methionine, excessive accumulation of methionine has been observed.
4. 4 og 4. 8).
In a few cases, increased plasma methionine levels were associated with cerebral oedema (see sections 4.4 and 4.8).
Ved at måle plasma- homocystein- niveauet er det vist, at betain starter med at virke efter adskillige dage, og at den fulde effekt indtræder efter en måned.
Monitoring plasma homocysteine levels has demonstrated that the onset of action of betaine occurred within several days and that a steady-state response was achieved within one month.
Det forbedrer ikke den homocystein- sænkende effekt at øge antallet af doseringer til mere end to gange dagligt og/ eller at øge dosis til mere end 150 mg/ kg/ dag.
In paediatric patients less than 3 years of age, the usual effective dose regimen is 100 mg/ kg/ day given in 2 doses daily; increasing the frequency above twice daily and/ or the dose above 150 mg/ kg/ day does not improve the homocysteine-lowering effect.
Det er vist, at tilskud af betain til patienter med homocysteinuria kan forbedre en unormal metabolisme i den cerebrospinale væske.
Betaine supplementation was shown to improve the metabolic abnormalities in the cerebrospinal fluid of patients with homocystinuria.
Overvågning af betain- plasmakoncentrationerne kan ikke bruges til at definere behandlingens effektivitet, idet koncentrationerne ikke direkte svarer til passagen gennem den cytosoliske betain - homocystein methyltransferase- pathway.
Monitoring betaine plasma concentrations does not help to define the efficacy of treatment, since these concentrations do not directly correspond to the flux through the cytosolic betaine homocysteine methyl transferase pathway.
Betains absolutte biotilgængelighed er ikke blevet bestemt.
The absolute bioavailability of betaine has not been determined.
Hos raske voksne frivillige (mellem 20 og 49 år) var absorptionen hurtig (tmax = 0, 9 ± 0, 3 timer og Cmax = 0, 9 ± 0, 2 mM) efter en enkelt oral dosis betain (50mg/ kg).
In healthy adult volunteers (age between 21 to 49 years), after a single oral dose of betaine (50 mg/ kg), absorption was rapid (tmax = 0.9 ± 0.3 hours and a Cmax = 0.9 ± 0.2 mM).
Betain blev hurtigt fordelt i et relativt stort volumen (V/ F = 1, 3 l/ kg) med en langsom eliminationsrate (gennemsnitlig halveringstid = 14 timer, gennemsnitlig total clearance fra kroppen, CL/ F = 84ml/ t/ kg), den renale clearance er ubetydelig (5% af den totale clearance fra kroppen), hvilket nærmer sig en biotilgængelighed på en 100%.
Betaine was rapidly distributed into a relatively large volume (V/ F = 1.3 l/ kg), with a slow elimination rate (mean half life = 14 h, mean total body clearance, CL/ F, = 84 ml/ h/ kg), renal clearance being negligible (5% of total body clearance), assuming 100% bioavailability.
Efter et dosisregime med gentagne doser på 100 mg/ kg/ dag i 5 dage ændrede absorptionskinetikken sig ikke, men distributionshalveringstiden blev forlænget signifikant (med op til 36 timer), hvilket tyder på, at transport - og fordelingsprocesserne kan mættes.
After a repeated dose regimen of 100 mg/ kg/ day for 5 days, the absorption kinetics did not change but the distribution half life was prolonged significantly (up to 36 h), indicating saturable transport and redistribution processes.
De farmakokinetiske data fra homocysteinuriapatienter med et langvarigt betain- supplement er meget lig de tilsvarende fra raske frivillige.
The pharmacokinetic data of homocystinuric patients on long-term betaine supplementation are very similar to those of healthy volunteers.
Forskellen i betainkinetikken skyldes sandsynligvis betainmangel hos ubehandlet homocysteinuriapatienter og forskellen har kun betydning i starten af behandlingen.
This demonstrates that differences in betaine kinetics are most probably due to betaine depletion in untreated homocystinuria and are only meaningful for the initial treatment.
Ved høje doser sås en CNS- nedsættende effekt og irritation af den gastrointestinale kanal hos rotter.
At high doses, a CNS depressant effect and irritation of the gastrointestinal tract was seen in rats.
Der har ikke været udført karcinogenicitetsforsøg eller reproduktionstoksikologiske studier med betain.
Long-term carcinogenicity and reproductive toxicity studies have not been conducted on betaine.
5 6. 3 Opbevaringstid
5 After the first opening:
1 måned.
1 month.
Hver pakning indeholder en flaske med 180 g pulver.
Each pack contains 1 bottle with 180 g of powder.
Tre måleskeer forefindes i hver pakning.
Three measuring spoons are included in each pack.
6. 6 Regler for destruktion < og anden håndtering >
6.6 Special precautions for disposal
Orphan Europe SARL Immeuble “ Le Wilson ” F- 92058 Paris- La Défense Frankrig
Orphan Europe SARL Immeuble “ Le Wilson” F - 92058 Paris-La Défense France
Orphan Europe SARL Immeuble “ Le Wilson ” 70 avenue du Général de Gaulle F- 92800 Puteaux Frankrig
Immeuble "Le Wilson" 70 avenue du Général de Gaulle F-92800 Puteaux France
Lægemidlet må kun udleveres efter begrænset recept (jf. bilag I:
Medicinal product subject to restricted medical prescription (see annex I:
Indehaveren af markedsføringstilladelsen skal sikre sig, at der er oprettet et pharmacovigilance system, og at dette fungerer, inden produktet kommer på markedet, og så længe produktet er på markedet.
The MAH must ensure that the system of pharmacovigilance is in place and functioning before the product is placed on the market and for as long as the marketed product remains in use.
Indehaveren af markedsføringstilladelsen forpligter sig til at udføre de undersøgelser, der er beskrevet i pharmacovigilance planen.
The Marketing Authorisation Holder commits to performing the studies as detailed in the Pharmacovigilance Plan.
10 OPLYSNINGER, DER SKAL ANFØRES PÅ DEN YDRE EMBALLAGE
10 PARTICULARS TO APPEAR ON THE OUTER PACKAGING
Oralt brug.
Oral use.
Holdbarhed efter første åbning:
EXP {month/ year} Shelf life after the first opening:
12 MINDSTEKRAV TIL OPLYSNINGER, DER SKAL ANFØRES PÅ SMÅ INDRE EMBALLAGER
12 PARTICULARS TO APPEAR ON THE THE IMMEDIATE PACKAGING
LÆGEMIDLETS NAVN, STYRKE OG/ ELLER ADMINISTRATIONSVEJ( E)
Cystadane 1 g oral powder Betaine anhydrous
13 UBRUGTE LÆGEMIDLER ELLER AFFALD FRA SÅDANNE
SPECIAL PRECAUTIONS FOR DISPOSAL OF UNUSED MEDICINAL PRODUCTS OR WASTE MATERIALS DERIVED FROM SUCH MEDICINAL PRODUCTS, IF APPROPRIATE
Orphan Europe SARL Immeuble “ Le WilsonGuillaumet ” F- 92046 Paris- La Défense Frankrig
Orphan Europe SARL Immeuble “ Le Wilson” F - 92058 Paris-La Défense France
15 INDLÆGSSEDDEL:
15 PACKAGE LEAFLET:
- Lægen har ordineret Cystadane til dig personligt.
- This medicine has been prescribed for you.
Lad derfor være med at give Cystadane til
It may harm them, even
Cystadanes virkning og hvad du skal bruge det til 2.
What Cystadane is and what it is used for 2.
Det skal du vide, før du begynder at tage Cystadane 3.
Before you take Cystadane 3.
Sådan skal du tage Cystadane 4.
How to take Cystadane 4.
Sådan opbevarer du Cystadane 6.
Possible side effects 5 How to store Cystadane 6.
CYSTADANES VIRKNING OG HVAD DU SKAL BRUGE DET TIL
WHAT CYSTADANE IS AND WHAT IT IS USED FOR
Cystadane indeholder betain, vandfrit, der skal bruges som tillægsbehandling af en medfødt fejl i stofskiftet, som kaldes homocysteinuria.
Cystadane contains betaine anhydrous which is intended to be an adjunctive treatment of homocystinuria, an inborn error of metabolism.
Methionin er et stof, der findes i almindelige fødevarer (fx kød, fisk, mælk, ost og æg).
Methionine is an amino acid which is present in regular food protein (e. g. meat, fish, milk, cheese, eggs).
De typiske tegn på homocysteinuria er blodpropper i årene, skøre knogler, ændringer af skelettet og i øjets linse.
Homocystinuria is a disease caused by the accumulation of homocysteine which is not converted to cysteine and is characterized by formation of clots in the veins, bone weakness, and skeletal and crystalline lens abnormalities.