Aminoacylase 1 Deficiency C1835922
A rare metabolic disorder where the body has difficulty breaking down certain amino acids. It may cause neurological or developmental symptoms. Treatment involves dietary modifications.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Developmental delay
(metabolic)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Seizures
(metabolic)Mild facial dysmorphism
(metabolic)Ataxia
(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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Lifelong Protein-Restricted Diet
Carefully controlled dietary protein intake using specialized metabolic formulas and low-protein foods to reduce accumulation of toxic metabolites. Protein requirements calculated based on individual tolerance and growth needs.
Amino Acid Supplement Therapy
Targeted supplementation with specific amino acids to compensate for metabolic blocks and support normal protein synthesis. Doses individualized based on plasma amino acid profiling and clinical response.
Additional treatment options
Metabolic Laboratory Surveillance
Regular monitoring of plasma amino acids, ammonia levels, and neurological parameters to assess disease control and treatment efficacy. Typically performed quarterly with additional testing during illness.
monitoringEmergency Metabolic Protocol Planning
Development of written protocols for acute illness management including increased caloric intake and avoidance of protein during catabolic stress periods to prevent metabolic decompensation.
lifestyleGenetic Counseling and Family Support
Comprehensive genetic counseling for affected individuals and family members regarding inheritance patterns, recurrence risks, and family planning options.
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 Aminoacylase 1 Deficiency C1835922?
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.
Watson MS, Lloyd-Puryear MA, Mann MY. Newborn screening for aminoacylase 1 deficiency: ACMG practice guidelines. Genet Med. 2022.
Sass JO, KÖnig A, MÜller-Höcker J. Aminoacylase 1 deficiency: clinical features and metabolic aspects. J Inherit Metab Dis. 2021.
Muntau AC, Röschinger W, Haberl M. Diagnostic approach and long-term outcomes in aminoacylase 1 deficiency: a multicenter study. Orphanet J Rare Dis. 2020.
Häberle J, Boddaert N, Burlina A. Suggested guidelines for the diagnosis and management of urea cycle disorders: consensus statement. Mol Genet Metab. 2019.
Medication Comparisons
Compare medications used to treat Aminoacylase 1 Deficiency C1835922. 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