Disease or Syndrome
carnosinemia
Definitions related to carnosinemia:
  • A rare autosomal recessive metabolic disorder caused by mutation in CNDP1 gene. It is characterized by deficiency of carnosinase and manifests with severe mental defects and myoclonic seizures.
    NCI Thesaurus
    U.S. National Cancer Institute, 2021
  • (carnosinase deficiency) Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.
    OrphaNet
    INSERM, 2021
  • Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.
    NIH Genetic and Rare Diseases
    National Center for Advancing Translational Sciences
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