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Summary
GLUTARIC ACIDURIA TYPE III
GLUTARYL-CoA OXIDASE DEFICIENCY
231690
OMIM = Online Medalian Inheritance of Men
35706
7p14.1
rare
autosomal recessive
mutation in the C7ORF10 gene
symptoms
diarrhea
dysmorphism
failure to thrive
hyperthyroidism
no consistent clinical signs or symptoms
onset, childhood
onset, infancy
onset, neonatal
vomiting
laboratory finding
Glutaric acid100.00500.00 mmol/mol creatinineurine
3-Hydroxyglutaric acid0.00200.00 mmol/mol creatinineurine
Literature
Stacpoole PWet al.Treatment of congenital lactic acidosis with dichloroacetateArch Dis Child770535-5411997
Lee KS,et al.How to do in persistent diarrhea of children?: concepts and treatments of chronic diarrheaPediatr Gastroenterol Hepatol Nutr154229-2362012
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
Pezzella V,et al.Investigation of chronic diarrhoea in infancyEarly Hum Dev8911893-8972013