MITOCHONDRIAL COMPLEX III DEFICIENCY

Question 1

What is  MITOCHONDRIAL COMPLEX III DEFICIENCY?

Accepted Answer

rare
autosomal recessive
mutation in the nuclear-encoded BCS1L gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Isolierter Atmungskettendefekt im Komplex III; CoQ-Cytochrom C-Reduktase-Mangel, isolierter

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 124000

Question 4

Which enzymes are involved?

Accepted Answer

Mitochondrial chaperone BCS1

Disease	MITOCHONDRIAL COMPLEX III DEFICIENCY
Synonym	Mitochondrial chaperone BCS1
OMIM	124000 OMIM = Online Mendelian Inheritance of Men
Orphanet	1460
Protein (UniProt)	Mitochondrial chaperone BCS1
Gene locus	2q35
ICD	G71.3
Summary	rare autosomal recessive mutation in the nuclear-encoded BCS1L gene
Laboratory findings	D-Glucose dec (plasma) L-Lactic acid inc (plasma)
Symptoms	Amino acids, urine cataract cerebellar atrophy or hypoplasia cerebral atrophy cholestasis developmental delay EEG abnormalities [-] encephalopathy failure to thrive feeding difficulties, poor feeding hair, abnormal (thin, brittle, fine) hearing defect, deafness hypoglycemia hypotonia lactic acidosis liver involvement or dysfunction metabolic acidosis MRI, brain, abnormalities [-] muscle weakness onset, infancy psychomotor retardation renal dysfunction, renal defects