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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 1
MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) MTDPS1
603041
OMIM = Online Medalian Inheritance of Men
298
22q13.33
rare
autosomal recessive
symptoms
diarrhea
gastrointestinal dysmotility
hearing defect, deafness
lactic acidosis
leukoencephalopathy
malabsorption
muscle weakness
onset, adult
ophthalmoplegia
peripheral neuropathy
ptosis (drooping eyelid)
vomiting
weight loss
laboratory finding
Thymidine0.000.00 increasedplasma
Lactate0.000.00 increasedblood
Deoxyuridine0.000.00 increasedserum
Literature
Muller USteinberger D, Topka HMutations of GCH1 in Dopa-responsive dystoniaJ Neural Transm1093321-3282002
Hyland Ket al.The hph-1 mouse: a model for dominantly inherited GTP-cyclohydrolase deficiencyAnn Neurol Suppl540S46-482004
Kang JHet al.A novel missense mutation of the GTP cyclohydrolase I gene in a Korean family with hereditary progressive dystonia/dopa-responsive dystoniaBrain Dev2652787-2912004