MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 (MC1DN24)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 (MC1DN24)?

Accepted Answer

rare

autosomal recessive

mutation in the NDUFB9 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618245

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 (MC1DN24)
Synonym	NDUFB9
OMIM	618245 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9
Gene locus	8q24.13
ICD	G71.3
Summary	rare autosomal recessive mutation in the NDUFB9 gene
Laboratory findings	L-Lactic acid inc (serum)
Symptoms	hypotonia