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multiple acyl CoA dehydrogenase deficiency (MADD); glutaric aciduria-2; ethylmalonic-adipic aciduria
Pathology:
- disorder of fatty acid, amino acid, & choline metabolism
- in its most severe form in presents in infancy, with polycystic & dysplastic kidneys, hypoketotic acidosis & hypoglycemia that can lead to death
- milder form can be characterized by recurrent episodes of lasting lethargy or slowly progressive myopathy
Genetics:
- autosomal recessive
- can be caused by mutations in at least 3 different genes: ETFA, ETFB, ETFDH, glutaricaciduria IIA, IIB, & IIC, respectively [1]
Clinical manifestations:
- appears to be no difference in the clinical phenotypes among IIA, IIB, & IIC [1]
Laboratory:
- urinary excretion of:
a) glutaric acid
b) lactic acid
c) ethylmalonic acid
d) butyric acid
e) isobutyric acid
f) 2-methyl-butyric acid
g) isovaleric acid
General
glutaric aciduria
Database Correlations
OMIM 231680
References
- OMIM :accession 23168
- UniProt :accession P38117