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Summary
GLUTARIC ACIDURIA TYPE III
GLUTARYL-CoA OXIDASE DEFICIENCY
231690
OMIM = Online Medalian Inheritance of Men
35706
7p14.1
very rare
autosomal recessive
symptoms
diarrhea
dysmorphism
failure to thrive
hyperthyroidism
no clinical signs or symptoms
vomiting
laboratory finding
Glutaric acid0.000.00 increasedurineno data
3-Hydroxyglutaric acid0.000.00 normalurine
Literature
Stacpoole PWet al.Treatment of congenital lactic acidosis with dichloroacetateArch Dis Child770535-5411997
Stacpoole PWet al.Treatment of congenital lactic acidosis with dichloroacetateArch Dis Child770535-5411997
Hogan Let al.How often is a low 5-min Apgar score in term newborns due to asphyxia?Eur J Obstet Gynecol Reprod Biol002006