MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 (MC1DN12)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 (MC1DN12)?

Accepted Answer

very rare

X-linked recessive

mutation in the NDUFA1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 301020

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 (MC1DN12)
Synonym	NDUFA1
OMIM	301020 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1
Gene locus	Xq24
ICD	G71.3
Summary	very rare X-linked recessive mutation in the NDUFA1 gene
Laboratory findings	L-Lactic acid normal/inc (serum)
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