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Summary
CITRULLINEMIA TYPE II, NEONATAL ONSET
NEONATAL INTRAHEPATIC CHOLESTASIS CAUSED BY CITRIN DEFICIENCY, NICCD
605814
OMIM = Online Medalian Inheritance of Men
247598
7q21.3
  • supportive/symptomatic therapy
rare
autosomal recessive
mutation in the SLC25A13 gene
symptoms
bleeding tendencies, hemorrhages
cholestasis
cirrhosis or fibrosis of liver
Coagulopathy/Coagulation factors
developmental delay
failure to thrive
hepatomegaly (large liver)
hypoglycemia
jaundice
liver, fatty
onset, neonatal
laboratory finding
D-Galactose mmol/lplasma
Citrulline increasedplasma
Methionine increasedplasma
L-Tyrosine increasedplasma
L-Threonine increasedplasma
alpha-Fetoprotein increasedplasma
Acylcarnitine increasedblood
L-Carnitine increasedplasma
Propionylcarnitine (C3) increasedblood
Bilirubin increasedserum
4-Hydroxyphenyllactic acid0.000.00 increasedurine
Protein, total, serum decreasedserum
Palmitoylcarnitine (C16) increasedblood
Stearoylcarnitine (C18) increasedblood
Phenylalanine increased/normalblood
D-Galactose mmol/mol Creaurine
Literature
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Nakanishi TShimizu AIdentification of 3-hydroxyisovalerylcarnitine in the urine of a patient with multiple carboxylase deficiencyAnn Clin Biochem303318-3201993
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