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Summary
HYPERZINCAEMIA AND HYPERCALPROTECTINAEMIA
HYPERZINCEMIA, FAMILIAL DYSALBUMINEMIC
194470
OMIM = Online Medalian Inheritance of Men
251523
unknown
very rare
autosomal dominant
dysregulation of two members of the large S100 protein family [Sampson B et al. 2002]
symptoms
anemia
growth retardation
hepatomegaly (large liver)
infections (severe or recurrent)
muscle atrophy
splenomegaly (large spleen)
laboratory finding
Zinc77.00200.00 +Ôé¼mol/lplasma
Calprotectin1.406.50 g/lplasma
Leucocytes decreasedblood
Literature
Orngreen MCet al.Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutationsAnn Neurol57160-662005
Bennett MJet al.Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiencyMol Genet Metab82159-632004
Minkler PEet al.Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiencyClin Chim Acta352081-922005
Cromby CHManning NJ, Pollitt RJ, Powell S, Bennett MJ6-Methyluracil excretion in 2-Methylacetoacetyl-CoA Thiolase Deficiency and in 2 Children with Inexplained Recurrent KetoacidemiaJ Inherit Metab Dis17081-841994
Robinson JNet al.Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imagingPrenat Diagn2101053-10562001
Yamada Tet al.Lovastatin does not correct the accumulation of very long-chain fatty acids in tissues of adrenoleukodystrophy protein-deficient miceJ Inherit Metab Dis 2000 Sep23(6):607-14230607-6142000
den Boer MEet al.Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patientsPediatrics109099-1032002
Kilfoyle Det al.Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset casesN Z Med J1180U13202005