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Summary
COENZYME Q10 DEFICIENCY, PRIMARY, 4 (COQ10D4)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 SCAR9
612016
OMIM = Online Medalian Inheritance of Men
14q42.13
rare
autosomal recessive
mutation in the ADCK3 gene
symptoms
ataxia
cerebellar atrophy or hypoplasia
developmental delay
dystonia
encephalopathy
exercise intolerance
hyperreflexia
hypotonia
lactic acidosis
mental retardation
muscle weakness
onset, childhood
pyramidal signs
seizures
tremor or twitching
laboratory finding
Lactic acid increasedserum
Lactic acid increasedcerebrospinal fluid
MRI, brain, abnormalities -
Coenzyme Q10, Ubiquinone decreasedmuscle
Literature
Carr IM,Markham AFMolecular genetic analysis of the human sorbitol dehydrogenase geneMamm Genome69645-6521995
Gohar NA,et al.Identification of insulin gene variants in neonatal diabetesJ Matern Fetal Neonatal Med3091035-10402017
Vetter V,Shin YLens sorbitol dehydrogenase deficiency in a patient with congenital cataractEur J Pediatr1545389-3911995
Shin YS,et al.Sorbitol dehydrogenase deficiency in a family with congenital cataractsJ Inherit Metab Dis Suppl20151-1521984