COENZYME Q10 DEFICIENCY, PRIMARY, 6 (COQ10D6)

Question 1

What is  COENZYME Q10 DEFICIENCY, PRIMARY, 6 (COQ10D6)?

Accepted Answer

rare
autosomal recessive
mutation in the COQ6 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Nephrotisches Syndrom, steroid-resistentes, mit sensorineuraler Hörstörung, familiäre Form (Q-10-Mangel 6)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614650

Question 4

Which enzymes are involved?

Accepted Answer

Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial

Disease	COENZYME Q10 DEFICIENCY, PRIMARY, 6 (COQ10D6)
OMIM	614650 OMIM = Online Mendelian Inheritance of Men
Orphanet	280406
Protein (UniProt)	Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial
Gene locus	14q24.3
ICD	N04.8
Summary	rare autosomal recessive mutation in the COQ6 gene
Laboratory findings	Albumin dec (serum)
Symptoms	ataxia dysmorphism hearing defect, deafness heart involvement mental retardation motor retardation nephrotic syndrome onset, childhood onset, infancy proteinuria ptosis (drooping eyelid) renal failure, acute/chronic seizures