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Summary
LIVER FAILURE, INFANTILE, TRANSIENT (LFIT)
ACUTE INFANTILE LIVER FAILURE
613070
OMIM = Online Medalian Inheritance of Men
217371
22q13.31
rare
autosomal recessive
mutation in the TRMU gene
symptoms
cholestasis
Coagulopathy/Coagulation factors
feeding difficulties, poor feeding
hepatomegaly (large liver)
hyperammonemia
hypotonia
jaundice
lactic acidosis
liver failure
onset, infancy
onset, neonatal
pancreatic insufficiency
prominent abdomen
splenomegaly (large spleen)
vomiting
laboratory finding
Lactic acid3.006.00 mmol/lplasma
alpha-Fetoprotein increasedserum
Transaminases increasedserum
Ammonia +€mol/lblood
Hippuric acid1000.0015000.00 mmol/mol Creaurine
Literature
Nasrallah F,Feki M, Kaabachi NCreatine and creatine deficiency syndromes: biochemical and clinical aspectsPediatr Neurol423163-1712010
Mikati AG,et al.Epileptic and electroencephalographic manifestations of guanidinoacetate-methyltransferase deficiencyEpileptic Disord154407-4162013
Gu YHet al.A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosisJ Inherit Metab Dis284473-4782005
Leuzzi V,et al.Inborn errors of creatine metabolism and epilepsyEpilepsia542217-2272013