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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
symptoms
bleeding tendencies, hemorrhages
cholestasis
cirrhosis or fibrosis of liver
failure to thrive
hepatomegaly (large liver)
hypoglycemia
jaundice
liver, fatty
onset, newborn
laboratory finding
Galactose increasedserum
Coagulopathy/Coagulation factors abnormalplasma
Citrulline increasedplasma
Methionine increasedplasma
Tyrosine increasedplasma
Threonine increasedplasma
alpha-Fetoprotein increasedplasma
Acylcarnitin, urine increasedblood
Carnitine increasedplasma
Propionylcarnitine (C3) increasedblood
Bilirubin increasedserum
4-Hydroxyphenyllactic acid0.000.00 increasedurineno data
Protein, total, serum decreasedserum
Palmitoylcarnitine (C16) increasedblood
Stearoylcarnitine (C18) increasedblood
Phenylalanine increased/normalblood
Literature
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Harkke SLaine M, Jalanko AAspartylglucosaminidase (AGA) is efficiently produced and endocytosed by glial cells: implication for the therapy of a lysosomal storage disorderJ Gene Med56472-4822003
Thompson GNet al.Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthaseN Engl J Med337171203-12071997
Saarela Jet al.Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutationsHum Mol Genet109983-9952001
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Panzone Aet al.Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatmentPediatr Res330125-1281993
Vuillaumier-Barrot Set al.Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type IbJ Med Genet3911849-8512002
Meinhardt UMullis PEThe aromatase cytochrome P-450 and its clinical impactHorm Res570145-1522002
Nakanishi TShimizu AIdentification of 3-hydroxyisovalerylcarnitine in the urine of a patient with multiple carboxylase deficiencyAnn Clin Biochem303318-3201993
Westphal Vet al.Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation Mol Genet Metab73177-852001