3-Methylglutaconic aciduria type 1
MGCA1

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
3-methylglutaconic aciduria urinary 100 % 20855850 2013-11-14
Leukodystrophy nervous 67 % 20855850 2013-11-14
Mental retardation nervous 40 % 20855850 2013-11-14
Developmental delay nervous 40 % 20855850 2013-11-14
Ataxia nervous 30 % 20855850 2013-11-14
Dementia nervous 20 % 20855850 2013-11-14
Spasticity nervous 20 % 20855850 2013-11-14
Basal ganglia pathology nervous 16 % 20855850 2013-11-14
Cerebellar syndrome nervous 10 % 20855850 2013-11-14
Optic atrophy nervous 10 % 20855850 2013-11-14
Seizures nervous 10 % 20855850 2013-11-14
Athetosis nervous 10 % 20855850 2013-11-14
Vomiting digestive 10 % 20855850 2013-11-14
Quadriplegia nervous 10 % 20855850 2013-11-14
Self mutilation nervous 10 % 20855850 2013-11-14
Insomnia nervous 10 % 20855850 2013-11-14
Hepatomegaly digestive 10 % 20855850 2013-11-14
Hyperkinesia nervous 10 % 20855850 2013-11-14
Hypoglycemia circulatory 10 % 20855850 2013-11-14



List of references:


3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.
S B Wortmann, B H Kremer, A Graham, M A Willemsen, F J Loupatty, S L Hogg, U F Engelke, L A Kluijtmans, R J Wanders, S Illsinger, B Wilcken, J R Cruysberg, A M Das, E Morava, R A Wevers,

3-Methylglutaconic aciduria type I is a rare inborn error of leucine catabolism. It is thought to present in childhood with nonspecific symptoms; it was even speculated to be a nondisease. The natural course of disease is unknown.

Neurology - Sep 2010