Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans
PMID: 11555793
Gene: GATM
Disease: AGAT deficiency
Inheritance: Autosomal Recessive
5 Matching Annotations
- Oct 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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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
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Disorders of creatine transport and metabolismâ€
PMID: 21308988
Gene: SLC6A8
Disease: Creatine transporter deficiency
Inheritance: X-linked
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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:
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Clinical characteristics and diagnostic cluesin inborn errors of creatine metabolism
Title annotation
PMID: 12889668
Gene: GAMT
Disease: GAMT deficiency
Inheritance: Autosomal Recessive NO EVIDENCE
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