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Summary
HEMOCHROMATOSIS, NEONATAL
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
bleeding tendencies, hemorrhages
cholestasis
cirrhosis or fibrosis of liver
early death
encephalopathy
hydrops fetalis
hypoglycemia
jaundice
liver failure
liver involvement or dysfunction
oligohydramnion (maternal)
onset, fetus
onset, infancy
onset, neonatal
pleural effusions
polyhydramnion (maternal)
small for gestational age (SGA), intrauterine growth retardation (IUGR)
thrombopenia, thrombocytopenia
laboratory finding
Hemoglobine 12.0020.00decreasedblood
Ferritin 200.00600.00increasedserum
D-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
Heylen E,et al.Tyrosinemia Type III detected via neonatal screening: management and outcomeMol Genet Metab1073605-6072012
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
Andersson HC50 years ago in The Journal of Pediatrics: Tyrosinemia--an inborn error of tyrosine metabolism with cirrhosis of the liver and multiple renal defectsJ Pediatr16648962015
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
DEufemia P,et al.Increased nitric oxide release by neutrophils of a patient with tyrosinemia type IIIBiomed Pharmacother635359-3612009
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
Kocabeyoglu S,Mocan MC, Irkec MIn vivo confocal microscopic features of corneal pseudodendritic lesions in tyrosinemia type IICornea33101106-11102014
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