MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (MC3DN6)

Question 1

What is  MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (MC3DN6)?

Accepted Answer

very rare

autosomal recessive

mutation in the CYC1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 615453

Question 3

Which enzymes are involved?

Accepted Answer

Cytochrome c1, heme protein, mitochondrial

Disease	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (MC3DN6)
OMIM	615453 OMIM = Online Mendelian Inheritance of Men
Orphanet	1460
Protein (UniProt)	Cytochrome c1, heme protein, mitochondrial
Gene locus	8q24.3
ICD	G71.3
Summary	very rare autosomal recessive mutation in the CYC1 gene
Laboratory findings	Ammonia normal/inc (blood) Ketone bodies (urine) inc (urine) L-Lactic acid inc (serum) Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms	coma encephalopathy hyperammonemia hyperglycemia ketosis, ketoacidosis lactic acidosis liver failure onset, childhood onset, infancy