24 Matching Annotations
  1. Jun 2025
  2. link.springer.com link.springer.com
    Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT
    1
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    link.springer.com/article/10.1007/s10048-022-00708-2
  3. Oct 2024
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ajhg00018-0017.pdf
    1
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    pmc.ncbi.nlm.nih.gov/articles/instance/1914613/pdf/ajhg00018-0017.pdf
  5. Dec 2022
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Biochemical and clinical characteristics of creatine deficiency syndromes
    1
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    pubmed.ncbi.nlm.nih.gov/15625559/
  7. 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
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    pubmed.ncbi.nlm.nih.gov/12709373/
  8. 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
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    sciencedirect.com/science/article/abs/pii/S1096719210002568
  9. academic.oup.com academic.oup.com
    l-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome
    3
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    academic.oup.com/hmg/article/22/1/110/616255
  10. Nov 2022
  11. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism
    1
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    pubmed.ncbi.nlm.nih.gov/12889668/
  12. 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
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    pubmed.ncbi.nlm.nih.gov/32172372/
  13. www.sciencedirect.com www.sciencedirect.com
    LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step
    1
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    sciencedirect.com/science/article/pii/S0009898119301123
  14. 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
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    pubmed.ncbi.nlm.nih.gov/28971744/
  15. academic.oup.com academic.oup.com
    l-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome
    1
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    academic.oup.com/hmg/article/22/1/110/616255
  16. www.pedneur.com www.pedneur.com
    Case Study for the Evaluation of Current Treatment Recommendations of Guanidinoacetate Methyltransferase Deficiency: Ineffectiveness of Sodium Benzoate
    1
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    pedneur.com/article/S0887-8994(14)00139-8/fulltext
  17. Oct 2022
  18. 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/
  19. 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
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    onlinelibrary.wiley.com/doi/pdfdirect/10.1023/A:1024453704800
  20. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC8093930/
  21. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Pre-symptomatic treatment of creatine biosynthesis defects
    1
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    pubmed.ncbi.nlm.nih.gov/18652077/
  22. bmcpregnancychildbirth.biomedcentral.com bmcpregnancychildbirth.biomedcentral.com
    Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report
    1
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    bmcpregnancychildbirth.biomedcentral.com/articles/10.1186/s12884-020-03192-4
  23. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Guanidinoacetic acid deficiency: a new entity in clinical medicine?
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7532483/