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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (MC1DN22)
NDUFA10
618243
OMIM = Online Medalian Inheritance of Men
255241
2q37.3
very rare
autosomal recessive
mutation in the NDUFA10 gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
defect of walking, running, rising or climbing
developmental delay
early death
hypotonia
intrauterine growth retardation
lactic acidosis
onset, infancy
pulmonary hypertension
respiratory insufficiency
white matter changes, abnormalities
laboratory finding
L-Lactic acid mmol/lcerebrospinal fluid
L-Lactic acid mmol/lserum
MRI, brain, abnormalities -
Literature
Gerrits GP,et al.Argininosuccinic aciduria: clinical and biochemical findings in three children with the late onset form, with special emphasis on cerebrospinal fluid findings of amino acids and pyrimidinesNeuropediatrics24115-181993
van Kuilenburg AB,et al.Analysis of pyrimidine synthesis de novo intermediates in urine during crisis of a patient with ornithine transcarbamylase deficiencyNucleosides Nucleotides Nucleic Acids2591251-12552006