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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (MC1DN26)
NDUFA9
618247
OMIM = Online Medalian Inheritance of Men
255241
12p13.32
very rare
autosomal recessive
mutation in the NDUFA9 gene
symptoms
cerebellar atrophy or hypoplasia
cerebral atrophy
chorea or athetosis
dysarthria
dysphagia
dystonia
hearing defect, deafness
hypertonia, spasticity
hyporeflexia
lactic acidosis
metabolic acidosis
muscle atrophy
neuropathy
respiratory insufficiency
retinitis pigmentosa
white matter changes, abnormalities
laboratory finding
L-Lactic acid mmol/lserum
Literature
Pena-Quintana L,et al.Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectivesPatient Prefer Adherence1101489-14962017
van Kuilenburg AB,et al.Analysis of pyrimidine synthesis de novo intermediates in urine and dried urine filter- paper strips with HPLC-electrospray tandem mass spectrometryClin Chem50112117-21242004