MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (MC3DN4)

Question 1

What is  MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (MC3DN4)?

Accepted Answer

rare

autosomal recessive

mutation in the UQCRQ gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 615159

Question 3

Which enzymes are involved?

Accepted Answer

Cytochrome b-c1 complex subunit 8

Disease	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (MC3DN4)
OMIM	615159 OMIM = Online Mendelian Inheritance of Men
Orphanet	1460
Protein (UniProt)	Cytochrome b-c1 complex subunit 8
Gene locus	5q31.1
ICD	G71.3
Summary	rare autosomal recessive mutation in the UQCRQ gene
Laboratory findings	L-Lactic acid inc (serum)
Symptoms	ataxia defect of walking, running, rising or climbing developmental delay dystonia hyperreflexia hypotonia mental retardation MRI, brain, abnormalities [-] psychomotor retardation speech development, delayed, abnormal