22 Matching Annotations
  1. Dec 2022
    1. Biochemical and clinical characteristics of creatine deficiency syndromes

      PMID: 15625559

      Gene:GAMT

      Disease:GAMT deficiency

      Inheritance: Autosomal Recessive

    1. Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency

      PMID: 12709373

      Gene: GAMT

      Disease:GAMT deficiency

      Inheritance: Autosomal Recessive

    1. OMIM 612718

      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

    2. l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation

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

    1. OMIM 300352)

      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

    2. OMIM 601240

      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

    3. OMIM 602360

      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

  2. Nov 2022
    1. Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice

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

    1. LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step

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

    1. 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

  3. Oct 2022
    1. Patient 1

      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

    2. Patient 2

      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

    1. V-3

      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

    2. V-1

      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

    3. Adult GAMT deficiency: A literature review and report of two siblings

      PMID: 33996490

      Gene: GAMT

      Disease: GAMT deficiency

      Inheritance: Autosomal Recessive

    1. Pre-symptomatic treatment of creatine biosynthesis defects

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

      Not accessible

    1. Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report

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

    1. Guanidinoacetic acid deficiency: a new entity in clinical medicine?

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