" /> Coenzyme q10 deficiency, primary, 4 - CISMeF





Preferred Label : Coenzyme q10 deficiency, primary, 4;

Symbol : COQ10D4;

CISMeF acronym : COQ10D4; SCAR9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SCAR9; Spinocerebellar ataxia, autosomal recessive 9;

Description : Primary coenzyme Q10 deficiency-4 is an autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Some affected individuals develop seizures and have mild mental impairment, indicating variable severity. Oral coenzyme Q10 supplementation does not result in significant improvement of neurologic symptoms (summary by Mollet et al., 2008 and Lagier-Tourenne et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the AARF domain-containing kinase 3 gene (ADCK3, 606980.0001);

Laboratory abnormalities : Increased serum and CSF lactate;

Prefixed ID : #612016;

Détails


Vous pouvez consulter :


Nous contacter.
29/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.