COENZYME Q10 DEFICIENCY, PRIMARY, 3 (COQ10D3)

Question 1

What is  COENZYME Q10 DEFICIENCY, PRIMARY, 3 (COQ10D3)?

Accepted Answer

very rare
autosomal recessive
mutation in the PDSS2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Leigh-Syndrom mit nephrotischem Syndrom (Q-10-Mangel-3)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614652

Question 4

Which enzymes are involved?

Accepted Answer

Decaprenyl-diphosphate synthase subunit 2

Disease	COENZYME Q10 DEFICIENCY, PRIMARY, 3 (COQ10D3)
OMIM	614652 OMIM = Online Mendelian Inheritance of Men
Orphanet	255249
Protein (UniProt)	Decaprenyl-diphosphate synthase subunit 2
ExPASy	2.5.1.91
Gene locus	6q21
ICD	G31.8
Summary	very rare autosomal recessive mutation in the PDSS2 gene
Laboratory findings	Albumin dec (serum) Coenzyme Q10, Ubiquinone dec (muscle) L-Lactic acid inc (plasma)
Symptoms	ataxia blindness, visual loss, visual impairment early death edema encephalopathy epilepsy feeding difficulties, poor feeding hypotonia lactic acidosis Leigh syndrome nephrotic syndrome onset, infancy onset, neonatal proteinuria retinitis pigmentosa seizures status epilepticus