Visit Metagene.de!
Summary
LONG-CHAIN FATTY ACIDS, DEFECT IN TRANSPORT OF
LONG-CHAIN FATTY ACIDS, DEFECT IN TRANSPORT OF
603376
OMIM = Online Medalian Inheritance of Men
unknown
  • liver transplantation
very rare (2 cases)
symptoms
encephalopathy
liver failure
onset, childhood
onset, infancy
laboratory finding
Literature
Dhondt JLet al.Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiencyJ Pediatr1060954-9561985
Blau Net al.A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening programJ Pediatr1263401-4051995
Koer D,et al.An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screeningJ Pediatr Endocrinol Metab285669-6712015