Case #: Patient C, family of 2. 8 year old female of Indian origin

Disease Assertion: Guanidinoacetate methyltransferase deficiency

Family Info: Parents are nonconsanguineous parents and confirmed to be carriers

CasePresentingHPOs:HP:0001263, HP:0010864, HP:0012434, HP:0001344, HP:0002474, HP:0100543, HP:000207, HP:0002123, HP:0000752, HP:4000064, HP:0040082, HP:0004322, HP:0004325, HP:0025051

CaseHPOFreeText:Walking unsupported while stooping forward, Frequent bursts of laughter, Happy predisposition, Delayed neck holding, Poor balance, Abnormal gait, Low plasma creatinine, GAMT deficiency

CaseNotHPOs: HP:0000365, HP:0000505, HP:0001999, HP:0003808, HP:0001315, HP:0001291, HP:0410263, HP:0002353

CaseNotHPOFreeText: Other cerebellar signs besides truncal ataxia, Normal blood tandem mass spectrometry, Normal urine GC-MS, Normal chromosomal microarray (CMA), Normal Angelman syndrome methylation study

PMID: 36633690 Gene: GAMT Disease: GAMT deficiency Inheritance: Autosomal Recessive

PMID: 8651275

Gene: GAMT

Disease: GAMT deficiency

Inheritance: Autosomal Recessive

PMID: 15625559

Gene:GAMT

Disease:GAMT deficiency

Inheritance: Autosomal Recessive

PMID: 12709373

Gene: GAMT

Disease:GAMT deficiency

Inheritance: Autosomal Recessive

Case#: pt I, 21 y/o male

DiseaseAssertion: GAMT deficiency

FamilyInfo:non-consangeous parents of Yemenite Jewish descent

CasePresentingHPOs: expressive speech was delayed, reduced strength and stamina, delayed general cognitive function

CaseHPOFreeText: N/A

CaseNotHPOs:N/A

CaseNotHPOFreeText: N/A

Biochemical analyte testing: abnormal CK and EMG results

Brain Magnetic Resonance Spectroscopy (MRS): appeared normal

GAMT activity assay: N/A

Zygosity: autosomal recessive

Variant 1: OMIM 612718

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

PMID: 20682460 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

Case#: N/A

DiseaseAssertion: AGAT mutation

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

Biochemical analyte testing: N/A

Brain Magnetic Resonance Spectroscopy (MRS): N/A

GAMT activity assay: N/A

Zygosity: homozygous

Variant 1: OMIM 602360

ClinVarID: 8303

CAID: CA340769

gnomAD: N/A

Case#: N/A

DiseaseAssertion: AGAT mutation

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

Biochemical analyte testing: N/A

Brain Magnetic Resonance Spectroscopy (MRS): N/A

GAMT activity assay: N/A

Zygosity: homozygous

Variant 1: OMIM 602360

ClinVarID: 8303

CAID: CA340769

gnomAD: N/A

Case#: N/A

DiseaseAssertion: AGAT mutation

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

Biochemical analyte testing: N/A

Brain Magnetic Resonance Spectroscopy (MRS): N/A

GAMT activity assay: N/A

Zygosity: homozygous

Variant 1: OMIM 602360

ClinVarID: 8303

CAID: CA340769

gnomAD: N/A

PMID: 12889668<br /> Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

PMID: 32172372 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

PMID: 30858092 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

PMID: 28971744 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

PMID: 23026748 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

PMID: 24766785

Gene: GAMT

Disease: GAMT deficiency

Inheritance: X-linked

Case#: female, age 4

DiseaseAssertion: GAMT deficiency

FamilyInfo: Patient 2 is the sister of patient 1, both parents are heterozygous for the mutation.

CasePresentingHPOs: N/A CaseHPOFreeText: N/A CaseNotHPOs: N/A CaseNotHPOFreeText: N/A

Biochemical analyte testing: urine excretion- 16, 13 micromol/g

Zygosity: homozygous

Variant: 9297 G to A nucleotide change ClinVarID: N/A CAID: N/A gnomAD: N/A PMID:11555793

Case#: female, age 6

DiseaseAssertion: GAMT deficiency

FamilyInfo: Patient 2 is the sister of patient 1, both parents are heterozygous for the mutation.

CasePresentingHPOs: N/A CaseHPOFreeText: N/A CaseNotHPOs: N/A CaseNotHPOFreeText: N/A

Biochemical analyte testing: urine excretion- 17,9 micromol/g

Zygosity: homozygous

Variant: 9297 G to A nucleotide change ClinVarID: N/A CAID: N/A gnomAD: N/A PMID:11555793

Title annotation

PMID: 12889668

Gene: GAMT

Disease: GAMT deficiency

Inheritance: Autosomal Recessive NO EVIDENCE

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

PMID: 18652077 Gene: GAMT Disease:GAMT deficiency Inheritance:Autosomal Recessive

Not accessible

PMID: 32883247 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

PMID: 33029096 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked