COENZYME Q10 DEFICIENCY, PRIMARY, 4 (COQ10D4)

Question 1

What is  COENZYME Q10 DEFICIENCY, PRIMARY, 4 (COQ10D4)?

Accepted Answer

rare
autosomal recessive
mutation in the ADCK3 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Ataxie, autosomal-rezessive, durch Ubiquinon-Mangel (Q-10-Mangel-4)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 612016

Question 4

Which enzymes are involved?

Accepted Answer

Atypical kinase COQ8A, mitochondrial

Disease	COENZYME Q10 DEFICIENCY, PRIMARY, 4 (COQ10D4)
Synonym	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9; SCAR9
OMIM	612016 OMIM = Online Mendelian Inheritance of Men
Orphanet	139485
Protein (UniProt)	Atypical kinase COQ8A, mitochondrial
Gene locus	14q42.13
ICD	G11.1
Summary	rare autosomal recessive mutation in the ADCK3 gene
Laboratory findings	Coenzyme Q10, Ubiquinone dec (muscle) L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (plasma)
Symptoms	ataxia cerebellar atrophy or hypoplasia developmental delay dystonia encephalopathy epilepsy exercise intolerance hyperreflexia hypotonia lactic acidosis mental retardation MRI, brain, abnormalities [-] muscle weakness onset, childhood pyramidal signs rhabdomyolysis seizures tremor or twitching