MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (MC1DN16)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (MC1DN16)?

Accepted Answer

very rare

autosomal recessive

mutation in the NDUFAF5 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618238

Question 3

Which enzymes are involved?

Accepted Answer

Arginine-hydroxylase NDUFAF5, mitochondrial

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (MC1DN16)
Synonym	NDUFAF5
OMIM	618238 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	Arginine-hydroxylase NDUFAF5, mitochondrial
Gene locus	20p12.1
ICD
Summary	very rare autosomal recessive mutation in the NDUFAF5 gene
Laboratory findings
Symptoms