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Summary
THYMIDINE PHOSPHORYLASE DEFICIENCY
MITOCHONDRIAL DNA DEPLETION SYNDROME 1
603041
OMIM = Online Medalian Inheritance of Men
298
22q13.33
rare
autosomal recessive
-> MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (603041)
symptoms
gastrointestinal dysmotility
onset, adolescent
onset, childhood
white matter changes, abnormalities
laboratory finding
2-Deoxyuridine increasedplasma
2-Deoxyuridine increasedurine
MRI, brain, white matter abnormalities -
Literature