3-Methylglutaconic aciduria type 3

Contact us
Return to database

Description from OMIM

Type III 3-methylglutaconic aciduria is a neuroophthalmologic syndrome consisting of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal dysfunction, and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and of 3-methylglutaric acid is increased (Anikster et al., 2001). The phenotype is similar to Behr syndrome (210000) and may in some cases represent the same disorder (Sheffer et al., 1992; Lerman-Sagie, 1995).

Prevalence of clinical parameters (%)

Add new symptom/sign to this disease

Select symptom from list or write it in the box
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%)
Please provide your name and contact information as a reference
Name Institute Phone number Email address

List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Optic atrophy nervous 100 % 7510656 2013-11-14
3-methylglutaconic aciduria urinary 100 % 7510656 2013-11-14
3-methylglutaric aciduria urinary 100 % 7510656 2013-11-14
Visual acuity decrease nervous 94 % 20301646 2013-11-14
Extrapyramidal symptoms nervous 89 % 7510656 2013-11-14
Chorea nervous 89 % 20301646 2013-11-14
Spasticity nervous 75 % 7510656 2013-11-14
Ataxia nervous 50 % 7510656 2013-11-14
Dysarthria nervous 50 % 7510656 2013-11-14
Cognitive deficits nervous 50 % 7510656 2013-11-14
Mental retardation nervous 50 % 7510656 2013-11-14
Short stature skeletal 25 % 7510656 2013-11-14

List of references:

3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome.
O N Elpeleg, H Costeff, A Joseph, Y Shental, R Weitz, K M Gibson,

Eleven new patients of Iraqi-Jewish origin with bilateral optic atrophy, neurological abnormalities ('optic atrophy plus' syndrome) and 3-methylglutaconic aciduria (type III) are described. Clinical abnormalities in decreasing order of frequency were bilateral optic atrophy, extrapyramidal signs, spasticity, ataxia, dysarthria and cognitive deficit. An association with age was found only for spasticity. Spasticity, extrapyramidal signs and optic atrophy frequently led to major disability, in contrast to ataxia, dysarthria and cognitive deficit. The combined excretion of 3-methylglutaconic and 3-methylglutaric acid ranged between 9 and 187 mmol/mol creatinine. The primary enzymatic defect possibly may reside in the mitochondrial respiratory chain.

Developmental medicine and child neurology - Feb 1994