MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (MC1DN26)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (MC1DN26)?

Accepted Answer

very rare

autosomal recessive

mutation in the NDUFA9 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618247

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (MC1DN26)
Synonym	NDUFA9
OMIM	618247 OMIM = Online Mendelian Inheritance of Men
Orphanet	255241
Protein (UniProt)	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial
Gene locus	12p13.32
ICD
Summary	very rare autosomal recessive mutation in the NDUFA9 gene
Laboratory findings	L-Lactic acid inc (serum)
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