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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 (MC1DN12)
NDUFA1
301020
OMIM = Online Medalian Inheritance of Men
2609
Xq24
very rare
X-linked recessive
mutation in the NDUFA1 gene
symptoms
cerebellar atrophy or hypoplasia
chorea or athetosis
defect of walking, running, rising or climbing
developmental delay
early death
extrapyramidal signs
hyporeflexia
hypotonia
lactic acidosis
nystagmus
onset, infancy
seizures
white matter changes, abnormalities
laboratory finding
L-Lactic acid mmol/lserum
Literature
Lee JS,et al.Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosisBrain Dev405383-3902018
Imamura I,et al.Histamine metabolism in patients with histidinemia: determination of urinary levels of histamine, N tau-methylhistamine, imidazole acetic acid, and its conjugate(s)J Biochem9661925-19291984
Taylor RG,Levy HL, McInnes RRHistidase and histidinemia. Clinical and molecular considerationsMol Biol Med81101-1161991
Alessandr+ΒΌ MG,et al.Four years follow up of ACY1 deficient patient and pedigree studyBrain Dev002018