COENZYME Q10 DEFICIENCY, PRIMARY, ? (COQ10D?)

Question 1

What is  COENZYME Q10 DEFICIENCY, PRIMARY, ? (COQ10D?)?

Accepted Answer

very rare (3 patients)
new disease

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Q-10-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616359

Question 4

Which enzymes are involved?

Accepted Answer

2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial

Disease	COENZYME Q10 DEFICIENCY, PRIMARY, ? (COQ10D?)
Synonym	C-METHYLTRANSFERASE DEFICIENCY (COQ5)
OMIM	616359 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial
ExPASy	---
Gene locus	12q24.31
ICD	---
Summary	very rare (3 patients) new disease
Laboratory findings	Coenzyme Q10, Ubiquinone dec (muscle)
Symptoms	ataxia cognitive impairment encephalopathy onset, childhood onset, infancy seizures