Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 8 of 8 for "3-methylglutaconic" aciduria type 1
  1. ... MGCA1 Primary 3-methylglutaconic aciduria Genetic Testing Registry: 3-Methylglutaconic aciduria type 1 3-methylglutaconyl-CoA hydratase deficiency (AUH defect) Disease ...
  2. ... in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat. 2003 ... new? J Inherit Metab Dis. 2012 Jan;35(1):13-22. doi: 10.1007/s10545-010-9210- ...
  3. ... of SERAC1 PubMed SERINE ACTIVE SITE-CONTAINING PROTEIN 1; SERAC1 ... (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like ...
  4. ... not show signs and symptoms of the condition. 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type III Autosomal recessive OPA3 Autosomal recessive optic atrophy ...
  5. ... cannot pass X-linked traits to their sons. 3 methylglutaconic aciduria, type II 3-methylglutaconic aciduria type 2 BTHS Cardioskeletal myopathy with neutropenia and abnormal ...
  6. ... not show signs and symptoms of the condition. 3-methylglutaconic aciduria type V DCMA DCMA syndrome DNAJC19 defect MGA type V MGA5 MGCA5 Genetic Testing Registry: 3-methylglutaconic aciduria type 5 DCMA syndrome Disease InfoSearch National Organization for ...
  7. ... not show signs and symptoms of the condition. 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, and Leigh-like ... hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like ...
  8. ... B, Gahl WA, Anikster Y. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. ...