MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 (MC1DN13)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 (MC1DN13)?

Accepted Answer

very rare

autosomal recessive

mutation in the NDUFA2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618235

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 (MC1DN13)
Synonym	NDUFA2
OMIM	618235 OMIM = Online Mendelian Inheritance of Men
Orphanet	255241
Protein (UniProt)	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2
Gene locus	5q31.3
ICD	G31.8
Summary	very rare autosomal recessive mutation in the NDUFA2 gene
Laboratory findings	L-Lactic acid normal/inc (serum)
Symptoms	apnea cardiomyopathy cardiomyopathy, hypertrophic cerebral atrophy demyelinisation developmental delay early death epilepsy failure to thrive lactic acidosis Leigh syndrome leukoencephalopathy metabolic acidosis microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, infancy onset, neonatal optic atrophy seizures white matter changes, abnormalities