MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (MC1DN32)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (MC1DN32)?

Accepted Answer

very rare

autosomal recessive

mutation in the NDUFB8 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618252

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (MC1DN32)
Synonym	NDUFB8
OMIM	618252 OMIM = Online Mendelian Inheritance of Men
Orphanet	70474
Protein (UniProt)	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial
Gene locus	10q24.31
ICD	G31.8
Summary	very rare autosomal recessive mutation in the NDUFB8 gene
Laboratory findings	L-Lactic acid inc (serum)
Symptoms	cardiac involvement, cardiac defects developmental delay early death failure to thrive hypotonia lactic acidosis metabolic acidosis MRI, brain, abnormalities [-] onset, infancy respiratory insufficiency seizures white matter changes, abnormalities