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