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Summary
URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY
266120
OMIM = Online Medalian Inheritance of Men
35120
7p14.3
rare
autosomal recessive
mutation in the NT5C3A gene
symptoms
anemia
hemolysis
onset, adolescent
onset, childhood
onset, infancy
splenomegaly (large spleen)
laboratory finding
Myoglobin increasedurine
Glutathione decreasederythrocytes
Literature
Uusimaa J,et al.Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial diseaseJ Med Genet4810660-6682011