23 Matching Annotations
  1. Oct 2024
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ajhg00018-0017.pdf
    1
    1. annaheckler 22 Oct 2024
      Guanidinoacetate Methyltransferase Deficiency: The First InbornError of Creatine Metabolism in Man

      PMID: 8651275

      Gene: GAMT

      Disease: GAMT deficiency

      Inheritance: Autosomal Recessive

      General Gene:GAMT HGNC:4136
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    pmc.ncbi.nlm.nih.gov/articles/instance/1914613/pdf/ajhg00018-0017.pdf
  3. Dec 2022
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Biochemical and clinical characteristics of creatine deficiency syndromes
    1
    1. DrewSturgill 10 Dec 2022
      Biochemical and clinical characteristics of creatine deficiency syndromes

      PMID: 15625559

      Gene:GAMT

      Disease:GAMT deficiency

      Inheritance: Autosomal Recessive

      General, Gene:GAMT, HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/15625559/
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency
    1
    1. DrewSturgill 10 Dec 2022
      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

      General, Gene:GAMT, HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/12709373/
  6. www.sciencedirect.com www.sciencedirect.com
    l-arginine:glycine amidinotransferase (AGAT) deficiency: Clinical presentation and response to treatment in two patients with a novel mutation
    2
    1. DrewSturgill 10 Dec 2022
      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

      Gene:GAMT disease entity: GAMT deficiency clinvarID: 8303 CAID: CA340769
    2. DrewSturgill 10 Dec 2022
      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

      General, Gene:GAMT, HGNC:4136
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    sciencedirect.com/science/article/abs/pii/S1096719210002568
  7. academic.oup.com academic.oup.com
    l-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome
    3
    1. DrewSturgill 10 Dec 2022
      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

      Gene:GAMT disease entity: GAMT deficiency clinvarID: 8303 CAID: CA340769
    2. DrewSturgill 10 Dec 2022
      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

      Gene:GAMT disease entity: GAMT deficiency clinvarID: 8303 CAID: CA340769
    3. DrewSturgill 10 Dec 2022
      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

      Gene:GAMT disease entity: GAMT deficiency clinvarID: 8303 CAID: CA340769
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    academic.oup.com/hmg/article/22/1/110/616255
  8. Nov 2022
  9. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism
    1
    1. DrewSturgill 01 Nov 2022
      Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

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

      General: No evidence as far as I can see due to no open access Gene:GAMT HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/12889668/
  10. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice
    1
    1. DrewSturgill 01 Nov 2022
      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

      General: No evidence Gene:GAMT HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/32172372/
  11. www.sciencedirect.com www.sciencedirect.com
    LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step
    1
    1. DrewSturgill 01 Nov 2022
      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

      Gene:GAMT General: No evidence HGNC:4136
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    sciencedirect.com/science/article/pii/S0009898119301123
  12. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency
    1
    1. DrewSturgill 01 Nov 2022
      Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency

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

      Gene:GAMT General: No evidence as far as I can see due to no open access HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/28971744/
  13. academic.oup.com academic.oup.com
    l-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome
    1
    1. DrewSturgill 01 Nov 2022
      l-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome

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

      General: Insufficient evidence Gene:GAMT HGNC:4136
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    academic.oup.com/hmg/article/22/1/110/616255
  14. www.pedneur.com www.pedneur.com
    Case Study for the Evaluation of Current Treatment Recommendations of Guanidinoacetate Methyltransferase Deficiency: Ineffectiveness of Sodium Benzoate
    1
    1. Cort1676 01 Nov 2022
      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

      General Gene:GAMT HGNC:4136
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    URL

    pedneur.com/article/S0887-8994(14)00139-8/fulltext
  15. Oct 2022
  16. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans
    2
    1. delaneyoshea 27 Oct 2022
      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

      Gene:GAMT zygosity: homozygote
    2. delaneyoshea 27 Oct 2022
      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

      Gene:GAMT zygosity: homozygote
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    ncbi.nlm.nih.gov/pmc/articles/PMC1274356/
  17. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Clinical characteristics and diagnostic clues in inborn errors of creatine metabolismClinical characteristics and diagnostic clues in inborn errors of creatine metabolism
    1
    1. felicity_jg 26 Oct 2022
      Clinical characteristics and diagnostic cluesin inborn errors of creatine metabolism

      Title annotation

      PMID: 12889668

      Gene: GAMT

      Disease: GAMT deficiency

      Inheritance: Autosomal Recessive NO EVIDENCE

      General, Gene:GAMT, HGNC:4136
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    onlinelibrary.wiley.com/doi/pdfdirect/10.1023/A:1024453704800
  18. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Adult GAMT deficiency: A literature review and report of two siblings
    3
    1. pstclair 23 Oct 2022
      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

      Gene:GAMT CaseInfo DiseaseEntity:GAMTdeficiency UnregisteredVariant Zygosity:Homozygote
    2. pstclair 23 Oct 2022
      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

      Gene:GAMT CaseInfo DiseaseEntity:GAMTdeficiency UnregisteredVariant Zygosity:Homozygote
    3. pstclair 23 Oct 2022
      Adult GAMT deficiency: A literature review and report of two siblings

      PMID: 33996490

      Gene: GAMT

      Disease: GAMT deficiency

      Inheritance: Autosomal Recessive

      General Gene:GAMT HGNC:4136
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    ncbi.nlm.nih.gov/pmc/articles/PMC8093930/
  19. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Pre-symptomatic treatment of creatine biosynthesis defects
    1
    1. ThompsonA 12 Oct 2022
      Pre-symptomatic treatment of creatine biosynthesis defects

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

      Not accessible

      General Gene:GAMT HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/18652077/
  20. bmcpregnancychildbirth.biomedcentral.com bmcpregnancychildbirth.biomedcentral.com
    Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report
    1
    1. DrewSturgill 11 Oct 2022
      Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report

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

      General, Gene:GAMT, HGNC:4136
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    bmcpregnancychildbirth.biomedcentral.com/articles/10.1186/s12884-020-03192-4
  21. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Guanidinoacetic acid deficiency: a new entity in clinical medicine?
    1
    1. DrewSturgill 11 Oct 2022
      Guanidinoacetic acid deficiency: a new entity in clinical medicine?

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

      General, Gene:GAMT, HGNC:4136
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    ncbi.nlm.nih.gov/pmc/articles/PMC7532483/