2 Matching Annotations
  1. Nov 2022
    1. Patient

      Case#: Female, 6 years old, Caucasian

      DiseaseAssertion: GAMT Deficiency

      FamilyInfo: Was born after an uneventful pregnancy to nonconsanguineous Caucasian parents.

      CasePresentingHPOs: n/a

      CaseHPOFreeText: n/a

      CaseNotHPOs n/a

      CaseNotHPOFreeText: n/a

      Biochemical analyte testing: Plasma GAA was 4.617 μmol/L ± 0.64 (SD) after 1 year of combined creatine and ornithine supplementation and arginine-restricted diet therapy. Plasma GAA (Average 4.038 ± 0.72 μmol/L)

      Brain Magnetic Resonance Spectroscopy (MRS): 90% increase in ratio of creatine to choline-containing compounds ratio in basal ganglia and 75% increase in the ratio of creatine choline-containing compounds ratio in WM.

      GAMT activity assay: n/a

      Zygosity: compound heterozygous

      Variant 1: c.327G>A

      ClinVarID: n/a

      CAID: n/a

      gnomAD: n/a

      Variant 2: c.58dupT [p.Trp20LeufsX65]

      ClinVarID: n/a

      CAID: n/a

      gnomAD: n/a

      ParentalGenotypes: n/a

      AlsoPublished: n/a

    2. Case Study for the Evaluation of Current Treatment Recommendations of Guanidinoacetate Methyltransferase Deficiency: Ineffectiveness of Sodium Benzoate

      PMID: 24766785

      Gene: GAMT

      Disease: GAMT deficiency

      Inheritance: X-linked