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GTR Home > Conditions/Phenotypes > Primary hyperoxaluria, type I

Primary hyperoxaluria, type I

Synonyms
Glycolic aciduria; Hepatic AGT deficiency; OXALOSIS I; Oxalosis 1; Peroxisomal alanine glyoxylate aminotransferase deficiency; Primary hyperoxaluria type 1; Serine pyruvate aminotransferase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Primary Hyperoxaluria Type 1
Primary hyperoxaluria type 1 (PH1) is caused by deficiency of the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is reduced or absent, glyoxylate is converted to oxalate, which cannot be metabolized and must be excreted by the kidneys. Insoluble calcium oxalate crystals form due to high urinary oxalate concentration. Urinary crystals aggregate, leading to nephrolithiasis (i.e., calcium oxalate kidney stones) in the renal pelvis / urinary tract; often the crystals deposit in kidney parenchyma (nephrocalcinosis). The age at presentation of PH1 ranges from infancy (age <12 months) in 10% of individuals, childhood/adolescence (age 1-17 years) in 70%, and adulthood (age ≥18 years) in 20%. The natural history of untreated PH1 is (1) progressive decline in kidney function due to complications of nephrolithiasis (e.g., urinary obstruction, infection) and nephrocalcinosis, and (2) in persons with advanced chronic kidney disease (CKD), high plasma oxalate concentrations result in other organ and tissue damage from calcium oxalate deposition (i.e., "oxalosis"), most commonly in the bones, heart, and retina. In the absence of treatment, progression of oxalosis results in death from kidney failure and/or other organ involvement.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Dawn S Milliner
Peter C Harris
David J Sas
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  • Also known as: AGT, AGT1, AGXT1, PH1, SPAT, SPT, Ser-PyrAT, TLH6, AGXT
    Summary: alanine--glyoxylate aminotransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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