Sengers syndrome

Also known as: Cardiomyopathic mitochondrial DNA depletion syndrome

Congenital cataracts, hypertrophic cardiomyopathy and lactic acidosis.

Medical specialty: Cardiology
Subspecialty: Cardiology / Metabolic cardiomyopathy
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, neonatal
Gene(s) involved: AGK

Etiology & mechanism

AGK deficiency impairs mitochondrial lipid and protein import.

Gene(s) involved (1)

AGK

Symptoms & signs (6)

congenital cataractsearly deathexercise intolerancehypertrophic cardiomyopathyhypotonialactic acidosis

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.