Case#: V3, Pakistan, female, 23 years old (report),

DiseaseAssertion: GAMT deficiency

FamilyInfo: Patient V3 is a sister of V1. Consanguineous family.

CasePresentingHPOs: HP:0010864, HP:0001250, HP:0001257, HP:0003487, HP:0001251, HP:0001761 (severe intellectual disability, seizure, spasticity, Babinski sign, ataxia, pes cavus)

CaseHPOFreeText: Neonatal onset of seizures, Spasticity in upper and lower limbs, Peripheral neuropathy probably present, sitting delayed, standing delayed, walking delayed, never developed speech

CaseNotHPOs: HP:0001347 (hyperreflexia)

CaseNotHPOFreeText: Bed ridden, recurrent bone fractures

Biochemical analyte testing:

Brain Magnetic Resonance Spectroscopy (MRS): N/A

GAMT activity assay: N/A

Zygosity: Homozygous / compound heterozygous.

Variant 1: c.134G > A (p.Trp45)

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

Variant 2: N/A

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

ParentalGenotypes: Both parents confirmed to be heterozygous for c.134G > A

AlsoPublished: N/A

Case#: V1, Pakistan, male, 25 years old (report),

DiseaseAssertion: GAMT deficiency

FamilyInfo: Patient V1 is a brother of V3. Consanguineous family.

CasePresentingHPOs: HP:0010864, HP:0001250, HP:0001347, HP:0001257, HP:0003487, HP:0001251, HP:0001761 (severe intellectual disability, seizure, hyperreflexia, spasticity, Babinski sign, ataxia, pes cavus)

CaseHPOFreeText: Neonatal onset of seizures, Spasticity in upper and lower limbs, Peripheral neuropathy probably present, sitting delayed, standing delayed, walking delayed, never developed speech, bed ridden since age 17, recurrent bone fractures

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

Biochemical analyte testing: GAA: 13.7 μmol/L, creatine: 2 μmol/L

Brain Magnetic Resonance Spectroscopy (MRS): N/A

GAMT activity assay: N/A

Zygosity: Homozygous

Variant 1: c.134G > A (p.Trp45)

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

Variant 2: N/A

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

ParentalGenotypes: Both parents confirmed to be heterozygous for c.134G > A

AlsoPublished: N/A

PMID: 33996490

Gene: GAMT

Disease: GAMT deficiency

Inheritance: Autosomal Recessive