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Summary
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (HK1)
235700
OMIM = Online Medalian Inheritance of Men
90031
10q22.1
very rare (24 cases)
autosomal recessive
mutation in the HK1 gene
symptoms
anemia
hemolytic anemia
jaundice
onset, infancy
onset, neonatal
splenomegaly (large spleen)
laboratory finding
Hemoglobine g/dlblood
Bilirubin +€mol/lurine
Literature
Brivet M,et al.Impaired mitochondrial pyruvate importation in a patient and a fetus at riskMol Genet Metab783186-1922003
Bricker DK,et al.A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humansScience337609096-1002012
Maj MC,et al.Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementationJ Clin Endocrinol Metab9074101-41072005
Cameron JM,et al.Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotypeHum Genet1253319-3262009