MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (MC3DN9)

Question 1

What is  MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (MC3DN9)?

Accepted Answer

very rare

autosomal recessive

mutation in the UQCC3 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616111

Question 3

Which enzymes are involved?

Accepted Answer

Ubiquinol-cytochrome-c reductase complex assembly factor 3

Disease	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (MC3DN9)
OMIM	616111 OMIM = Online Mendelian Inheritance of Men
Orphanet	1460
Protein (UniProt)	Ubiquinol-cytochrome-c reductase complex assembly factor 3
Gene locus	11q12.3
ICD
Summary	very rare autosomal recessive mutation in the UQCC3 gene
Laboratory findings	D-Glucose dec (serum) L-Lactic acid inc (serum)
Symptoms	developmental delay feeding difficulties, poor feeding growth retardation, poor growth hypoglycemia hypotonia lactic acidosis onset, neonatal