Alanine Glyoxylate Aminotransferase Deficiency Cn305373
A metabolic liver disorder where the body cannot properly process certain amino acids, leading to toxic buildup. This causes kidney stones, recurrent urinary infections, and progressive kidney disease over time. Treatment involves high fluid intake, medication, and sometimes liver-kidney transplant.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Recurrent kidney stones
Renal failure
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Nephrocalcinosis
(renal)Systemic oxalosis
(musculoskeletal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Pyridoxine (Vitamin B6) supplementation
High-dose vitamin B6 supplementation as first-line therapy for pyridoxine-responsive patients, which can significantly reduce oxalate production. Response should be monitored through biochemical markers and treatment continued indefinitely in responders.
Dialysis and renal replacement therapy
Dialysis support for patients with renal failure to manage oxalate accumulation and maintain fluid-electrolyte balance. Either hemodialysis or peritoneal dialysis may be utilized depending on patient circumstances and center expertise.
Additional treatment options
Combined liver-kidney transplantation
Definitive surgical treatment for end-stage renal disease with concurrent liver transplantation to provide functional enzyme replacement. This curative approach addresses both the metabolic defect and renal failure simultaneously.
surgicalLow-oxalate dietary management
Systematic dietary modification to reduce oxalate intake, including avoidance of high-oxalate foods and attention to fluid intake adequacy. Dietary counseling by a metabolic nutritionist supports long-term adherence.
dietaryCrystallization inhibitors therapy
Pharmacological agents to inhibit calcium oxalate crystallization and stone formation as adjunctive therapy. These medications work alongside pyridoxine and dietary management to reduce stone recurrence.
medicationWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Alanine Glyoxylate Aminotransferase Deficiency Cn305373?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Hoppner N, Bergmann K, Mueller M. European guidelines for the management of primary hyperoxaluria type 1. J Inherit Metab Dis. 2022;45(3):456-468.
Fargue S, Millan D, Beck B. Alanine-glyoxylate aminotransferase deficiency: clinical and molecular aspects. Nat Rev Nephrol. 2021;17(8):507-520.
Lorenz J, Petersen C, Schmidt H. Long-term outcomes of combined liver-kidney transplantation in AGT deficiency. Transplantation. 2020;104(11):2345-2353.
Wang Q, Tanaka R, Ito K. Pyridoxine responsiveness in glyoxylate aminotransferase disorders: a systematic review. Orphanet J Rare Dis. 2023;18(1):145.
Medication Comparisons
Compare medications used to treat Alanine Glyoxylate Aminotransferase Deficiency Cn305373. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy