MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (MC1DN22)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (MC1DN22)?

Accepted Answer

very rare

autosomal recessive

mutation in the NDUFA10 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618243

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (MC1DN22)
Synonym	NDUFA10
OMIM	618243 OMIM = Online Mendelian Inheritance of Men
Orphanet	255241
Protein (UniProt)	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial
Gene locus	2q37.3
ICD	G31.8
Summary	very rare autosomal recessive mutation in the NDUFA10 gene
Laboratory findings	L-Lactic acid inc (serum) L-Lactic acid inc (cerebrospinal fluid)
Symptoms	cardiomyopathy cardiomyopathy, hypertrophic defect of walking, running, rising or climbing developmental delay early death hypotonia intrauterine growth retardation lactic acidosis MRI, brain, abnormalities [-] onset, infancy pulmonary hypertension respiratory insufficiency white matter changes, abnormalities