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Summary
NEONATAL HEMOCHROMATOSIS
GIANT CELL HEPATITIS, NEONATAL
231100
OMIM = Online Medalian Inheritance of Men
446
8q21.3
  • antoxidants
  • chelating agents
  • liver transplantation
rare autosomal recessive
symptoms
anemia
ascites
birthweight low (small for gestational age)
bleeding tendencies, hemorrhages
cholestasis
cirrhosis or fibrosis of liver
early death
encephalopathy
hydrops fetalis
hypoglycemia
jaundice
liver failure
liver involvement (acute, chronic, hepatitis)
oligohydramnion (maternal)
onset, fetus
onset, infant
onset, newborn
pleural effusions
polyhydramnion (maternal)
thrombopenia, thrombocytopenia
laboratory finding
Hemoglobine 12.0020.00decreasedblood
Ferritin 200.00600.00increasedserum
Glucose 3.305.50decreasedblood
Iron increasedliver
Protein, total, serum 6.208.00decreasedserum
Coagulopathy/Coagulation factors abnormalplasma
Coagulopathy/Coagulation factors
MRI, liver, abnormalities -
Albumin decreasedserum
Literature
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Ristow MNeurodegenerative disorders associated with diabetes mellitusJ Mol Med820510-5272004
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Hyland Ket al.Disorders of neurotransmitter metabolismPhysicians guide to the laboratory diagnosis of metabolic diseases Chapman & Hall, London0079-981996
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Blau Net al.A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening programJ Pediatr1263401-4051995
Chen Y-TBurchell AGlycogen storage diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.10935-9651995
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
van den Berg IETBerger RPhosphorylase b kinase deficiency in man: a reviewJ Inherit Metab Dis1304421990
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993