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

PMID: 24766785

Gene: GAMT

Disease: GAMT deficiency

Inheritance: X-linked