COENZYME Q10 DEFICIENCY, PRIMARY, 2 (COQ10D2)

Question 1

What is  COENZYME Q10 DEFICIENCY, PRIMARY, 2 (COQ10D2)?

Accepted Answer

rare
autosomal recessive
mutation in the PDSS1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Schwerhörigkeit - Enzephaloneuropathie - Adipositas - Valvulopathie (Q-10-Mangel 2)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614651

Question 4

Which enzymes are involved?

Accepted Answer

Decaprenyl-diphosphate synthase subunit 1

Disease	COENZYME Q10 DEFICIENCY, PRIMARY, 2 (COQ10D2)
OMIM	614651 OMIM = Online Mendelian Inheritance of Men
Orphanet	254898
Protein (UniProt)	Decaprenyl-diphosphate synthase subunit 1
ExPASy	2.5.1.9.1
Gene locus	10p12.1
ICD	E88.8
Summary	rare autosomal recessive mutation in the PDSS1 gene
Laboratory findings	Coenzyme Q10, Ubiquinone dec (muscle) L-Lactic acid inc (plasma)
Symptoms	areflexia cardiac involvement, cardiac defects hearing defect, deafness heart involvement lactic acidosis macrocephaly (large calvaria, >2 SD for age) mental retardation obesity onset, adolescent onset, childhood onset, fetus onset, infancy onset, neonatal onset, variable age optic atrophy peripheral neuropathy pulmonary hypertension valvular heart disease