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Alanine glyoxylate aminotransferase deficiency

MedGen UID:
986289
•Concept ID:
CN305373
•
Disease or Syndrome
Synonyms: AGXT defect; AGXT deficiency; alanine glyoxylate aminotransferase deficiency
 
Related gene: AGXT
 
Monarch Initiative: MONDO:0100278

Definition

Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1.
Fargue S, Harambat J, Gagnadoux MF, Tsimaratos M, Janssen F, Llanas B, Berthélémé JP, Boudailliez B, Champion G, Guyot C, Macher MA, Nivet H, Ranchin B, Salomon R, Taque S, Rolland MO, Cochat P
Kidney Int 2009 Oct;76(7):767-73. Epub 2009 Jul 1 doi: 10.1038/ki.2009.237. PMID: 19571789

Recent clinical studies

Etiology

Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1.
Fargue S, Harambat J, Gagnadoux MF, Tsimaratos M, Janssen F, Llanas B, Berthélémé JP, Boudailliez B, Champion G, Guyot C, Macher MA, Nivet H, Ranchin B, Salomon R, Taque S, Rolland MO, Cochat P
Kidney Int 2009 Oct;76(7):767-73. Epub 2009 Jul 1 doi: 10.1038/ki.2009.237. PMID: 19571789
Renal allograft survival in patients with oxalosis.
Cibrik DM, Kaplan B, Arndorfer JA, Meier-Kriesche HU
Transplantation 2002 Sep 15;74(5):707-10. doi: 10.1097/00007890-200209150-00020. PMID: 12352890

Diagnosis

Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1.
Fargue S, Harambat J, Gagnadoux MF, Tsimaratos M, Janssen F, Llanas B, Berthélémé JP, Boudailliez B, Champion G, Guyot C, Macher MA, Nivet H, Ranchin B, Salomon R, Taque S, Rolland MO, Cochat P
Kidney Int 2009 Oct;76(7):767-73. Epub 2009 Jul 1 doi: 10.1038/ki.2009.237. PMID: 19571789
Renal allograft survival in patients with oxalosis.
Cibrik DM, Kaplan B, Arndorfer JA, Meier-Kriesche HU
Transplantation 2002 Sep 15;74(5):707-10. doi: 10.1097/00007890-200209150-00020. PMID: 12352890
Alanine glyoxylate aminotransferase deficiency: biochemical and molecular genetic lessons from the study of a human disease.
Watts RW
Adv Enzyme Regul 1992;32:309-27. doi: 10.1016/0065-2571(92)90024-t. PMID: 1496924

Prognosis

Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1.
Fargue S, Harambat J, Gagnadoux MF, Tsimaratos M, Janssen F, Llanas B, Berthélémé JP, Boudailliez B, Champion G, Guyot C, Macher MA, Nivet H, Ranchin B, Salomon R, Taque S, Rolland MO, Cochat P
Kidney Int 2009 Oct;76(7):767-73. Epub 2009 Jul 1 doi: 10.1038/ki.2009.237. PMID: 19571789
Renal allograft survival in patients with oxalosis.
Cibrik DM, Kaplan B, Arndorfer JA, Meier-Kriesche HU
Transplantation 2002 Sep 15;74(5):707-10. doi: 10.1097/00007890-200209150-00020. PMID: 12352890
Alanine glyoxylate aminotransferase deficiency: biochemical and molecular genetic lessons from the study of a human disease.
Watts RW
Adv Enzyme Regul 1992;32:309-27. doi: 10.1016/0065-2571(92)90024-t. PMID: 1496924

Clinical prediction guides

Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1.
Fargue S, Harambat J, Gagnadoux MF, Tsimaratos M, Janssen F, Llanas B, Berthélémé JP, Boudailliez B, Champion G, Guyot C, Macher MA, Nivet H, Ranchin B, Salomon R, Taque S, Rolland MO, Cochat P
Kidney Int 2009 Oct;76(7):767-73. Epub 2009 Jul 1 doi: 10.1038/ki.2009.237. PMID: 19571789
Alanine glyoxylate aminotransferase deficiency: biochemical and molecular genetic lessons from the study of a human disease.
Watts RW
Adv Enzyme Regul 1992;32:309-27. doi: 10.1016/0065-2571(92)90024-t. PMID: 1496924

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