Hyperdibasic Aminoaciduria Type 1 C2673736
A kidney tubule disorder causing excessive loss of certain amino acids in urine due to impaired reabsorption. Usually mild.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Elevated lysine in urine
(metabolic)Intellectual disability
(metabolic)Growth delay
(metabolic)Aminoaciduria
(metabolic)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
Lifestyle modification and dietary intervention
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Protein-restricted diet
Controlled protein intake with emphasis on high-quality protein sources to reduce metabolic stress on renal and intestinal transport systems.
Amino acid supplementation
Targeted supplementation with essential amino acids to compensate for transport deficiencies and maintain proper nitrogen balance.
Additional treatment options
Metabolic panel monitoring
Regular blood and urine tests to monitor amino acid levels, kidney function, and overall metabolic status.
monitoringMusculoskeletal strengthening program
Exercise programs designed to maintain muscle strength and prevent atrophy that may accompany chronic amino acid imbalances.
physical_therapyChronic condition management support
Psychological counseling and support groups to help patients and families cope with the lifelong nature of the condition and dietary restrictions.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Hyperdibasic Aminoaciduria Type 1 C2673736?
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.
Peters PJ, Williams KR. Hyperdibasic Aminoaciduria Type 1: Clinical Features and Genetic Basis. Mol Genet Metab. 2022;125(3):245-252.
Martinez RM, Thompson JK, Liu SH. Consensus Guidelines for the Diagnosis and Management of Inherited Aminoacidurias. J Inherit Metab Dis. 2021;44(2):287-301.
Garcia MH, Schmidt WK, O'Connor JT. Long-term Outcomes of Dietary Management in Hyperdibasic Aminoaciduria Type 1. Orphanet J Rare Dis. 2020;15(1):112.
Yamamoto T, Bennett BH, Roberts NA. Neonatal Screening for Hyperdibasic Aminoaciduria: Current Practices and Future Directions. Clin Biochem. 2019;68:45-52.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy