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Sengers syndrome information


Senger's syndrome
Other namesCongenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome, Cardiomyopathy and cataract.
Autosomal recessive pattern is the inheritance manner of this condition
SymptomsCataracts, fatigue, muscle weakness, hypotonia, lactic acidosis, and cardiomyopathy.[1]
Usual onsetBirth
CausesMutations in the AGK and SLC25A4 genes.[2]
FrequencyRare

Sengers syndrome is a rare autosomal recessive mitochondrial disease characterised by congenital cataract, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.[3] Biallelic pathogenic mutations in the AGK gene, which encodes the acylglycerol kinase enzyme, cause Sengers syndrome.[2] In addition, heart disease and muscle disease are prevalent, meaning that life expectancy is short for many patients.[1]

  1. ^ a b "Sengers Syndrome | Hereditary Ocular Diseases".
  2. ^ a b Wu, Chen-Han Wilfred; Caha, Martin; Smoot, Leslie; Harris, David J.; Roberts, Amy E.; Sacharow, Stephanie; Bodamer, Olaf (July 2023). "Sengers syndrome and AGK-related disorders — Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases". Molecular Genetics and Metabolism. 139 (3): 107626. doi:10.1016/j.ymgme.2023.107626. ISSN 1096-7206. PMID 37354892.
  3. ^ "Orphanet: Sengers syndrome". orpha.net. Retrieved 2023-08-18.

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