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Definition

An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease.

Acronym

HP1

Synonyms

Alanine-glyoxylate aminotransferase deficiency
Glycolic aciduria
Hepatic AGT deficiency
Hyperoxaluria primary type I
Oxalosis I
Peroxisomal alanine glyoxylate aminotransferase deficiency
PH1
Primary hyperoxaluria type I
Serine pyruvate aminotransferase deficiency

 
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Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

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Main funding by: National Institutes of Health

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