Amino Aciduria With Mental Deficiency Dwarfism Muscular Dystrophy Osteoporosis And Acidosis C1859818
A complex inherited condition involving amino acids in urine, growth retardation, intellectual disability, muscle weakness, bone loss, and metabolic acidosis. Supportive care is the main approach.
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.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Dwarfism
(musculoskeletal)Osteoporosis
(musculoskeletal)Muscular dystrophy
(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
Specialized Amino Acid Formulas
Medical formulas containing precisely balanced amino acid mixtures that bypass metabolic defects while providing essential nutrients. These are the cornerstone of nutritional management in amino acid disorders.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Acidosis Management
Alkalinizing agents such as sodium bicarbonate or potassium citrate to correct metabolic acidosis and maintain blood pH within normal ranges. Dosing is adjusted based on regular blood gas and electrolyte monitoring.
When 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 Amino Aciduria With Mental Deficiency Dwarfism Muscular Dystrophy Osteoporosis And Acidosis C1859818?
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.
Meyer A, Hoffmann GF, Kölker S. Metabolic disorders with amino aciduria and neurological involvement: current perspectives. Orphanet J Rare Dis. 2022.
Saudubray JM, van Spronsen FJ, Chapman KA. Clinical practice guidelines for inherited metabolic diseases. J Inherit Metab Dis. 2021.
Häberle J, Burlina A, Chakrapani A. Long-term outcomes in patients with proximal renal tubular disorders: a multicenter study. Mol Genet Metab. 2023.
Lyon G, Kolodny EH, Prasad C. Transport defects of amino acids: analysis of published studies. Metab Brain Dis. 2020.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy