5 Matching Annotations
  1. Oct 2022
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans
    1
    1. felicity_jg 26 Oct 2022
      Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans

      PMID: 11555793

      Gene: GATM

      Disease: AGAT deficiency

      Inheritance: Autosomal Recessive

      General, Gene:GATM, HGNC:4175
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1274356/
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Disorders of creatine transport and metabolism
    3
    1. felicity_jg 26 Oct 2022
      AGAT deficiency was initially described

      Case annotation

      Case#: N/A

      DiseaseAssertion: AGAT Deficiency

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0000729, HP:0001249, HP:0002373, HP:0001252

      CaseHPOFreeText: mental retardation, autistic behavior, febrile seizures, hypotonia

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Developmental Delays, slow somatic growth

      Biochemical analyte testing: Plasma Creatine: low/normal and Urine Creatine: low/normal

      Brain Magnetic Resonance Spectroscopy (MRS): N/A

      Creatine uptake assay:

      Variant: c.G446A/p.W149X

      ClinVarID:

      CAID:

      gnomAD:

      Zygosity:

      MaternalGenotype:

      AdditionalParentalTesting:

      AlsoPublished: Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans

    2. felicity_jg 26 Oct 2022
      Disorders of creatine transport and metabolism†

      PMID: 21308988

      Gene: SLC6A8

      Disease: Creatine transporter deficiency

      Inheritance: X-linked

      eneral, Gene:SLC6A8, HGNC:11055
    3. felicity_jg 26 Oct 2022

      Title annotation

      PMID: 21308988

      Gene: SLC6A8

      Disease: Creatine transporter deficiency

      Inheritance: X-linked

      Case annotation

      Case#: N/A

      DiseaseAssertion: AGAT Deficiency

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0000729, HP:0001249, HP:0002373, HP:0001252

      CaseHPOFreeText: mental retardation, autistic behavior, febrile seizures, hypotonia

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Developmental Delays, slow somatic growth

      Biochemical analyte testing: Plasma Creatine: low/normal and Urine Creatine: low/normal

      Brain Magnetic Resonance Spectroscopy (MRS): N/A

      Creatine uptake assay:

      Variant:

      ClinVarID:

      CAID:

      gnomAD:

      Zygosity:

      MaternalGenotype:

      AdditionalParentalTesting:

      AlsoPublished:

      General, Gene:SLC6A8, HGNC:11055
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    onlinelibrary.wiley.com/doi/10.1002/ajmg.c.30292
  4. 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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    URL

    onlinelibrary.wiley.com/doi/pdfdirect/10.1023/A:1024453704800