Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Alanine-glyoxylate aminotransferase

The enzyme Alanine-glyoxylate aminotransferase is located in liver peroxisomes. In hyperoxaluria type 1 (oxalosis 1), its activity in liver cells is significantly reduced.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hyperoxaluria type 1
AGXT

References:

1.

Purdue PE et al. (1990) Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.

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2.

Orphanet article

Orphanet ID 119538 [^]
3.

NCBI article

NCBI 189 [^]
4.

OMIM.ORG article

Omim 604285 [^]
5.

Wikipedia article

Wikipedia EN (AGXT) [^]
Update: April 29, 2019