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