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Elevated circulating methylsuccinic acid concentration

MedGen UID:
Concept ID:
HPO: HP:0033146


Increased concentration of methylsuccinic acid in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated circulating methylsuccinic acid concentration

Conditions with this feature

Squalene synthase deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
Squalene synthase deficiency (SQSD) is a rare inborn error of cholesterol biosynthesis with multisystem clinical manifestations similar to Smith-Lemli-Optiz syndrome. Key clinical features include facial dysmorphism, a generalized seizure disorder presenting in the neonatal period, nonspecific structural brain malformations, cortical visual impairment, optic nerve hypoplasia, profound developmental delay / intellectual disability, dry skin with photosensitivity, and genital malformations in males.

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