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Summary
REYE SYNDROME LIKE MANIFESTATIONS
FATTY METAMORPHOSIS OF VISCERA VISCERA, FATTY METAMORPHOSIS
228100
OMIM = Online Medalian Inheritance of Men
unknown
a specific underlying defect should be excluded by careful clinical and biochemical investigation
symptoms
coma
early death
encephalopathy
feeding difficulties, poor feeding
hepatomegaly (large liver)
hyperammonemia
hypoglycemia
hypotonia
lethargy, drowsiness, malaise or sleep disorder
metabolic acidosis
vomiting
laboratory finding
Glucose decreasedblood
Transaminases increasedserum
Ammonia increasedblood
Literature
Lavulo LTEmig FA, Ash DEFunctional consequences of the G235R mutation in liver arginase leading to hyperargininemiaArch Biochem Biophys399149-552002
Santos Silva Eet al.Liver transplantation in a case of argininaemiaJ Inherit Metab Dis248885-8872001
Huizing Met al.Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patientJ Inherit Metab Dis210262-2671998
Gibson KMet al.Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)J Inherit Metab Dis210255-2611998
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Barth PGet al.L-2Hydroxyglutaric aciduria and lactic acidosisJ Inherit Metab Dis210251-2541998