Methylmalonic Aciduria And Homocystinuria Cb1l Type C5975387
A metabolic disorder impairing the body's ability to process certain amino acids and fats, affecting children and causing developmental delays. Treatment involves specialized diets and vitamin supplementation.
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
Metabolic acidosis
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Growth retardation
(endocrine)Megoblastic anemia
(hematologic)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Parenteral hydroxocobalamin therapy
High-dose vitamin B12 in the form of hydroxocobalamin administered by injection bypasses the metabolic block in cblJ type disorder. This addresses the underlying cofactor metabolism defect directly.
Protein-restricted diet with methionine limitation
Careful restriction of methionine and other precursor amino acids through modified protein intake reduces toxic metabolite accumulation. Diet must be balanced with essential amino acid supplementation.
Additional treatment options
Emergency dialysis for metabolic crisis
In acute decompensation with severe hyperammonemia or acidemia, renal replacement therapy removes toxic metabolites when aggressive medical management fails to control metabolic derangement.
procedureBetaine supplementation
Betaine serves as an alternative methyl donor to help lower elevated homocysteine levels through remethylation pathways. This oral medication complements B12 therapy in managing homocystinuria component.
medicationMetabolic monitoring with metabolite panels
Regular measurement of plasma homocysteine, methylmalonic acid, and amino acid levels guides treatment adjustments. Monitoring frequency intensifies during metabolic stress or illness.
monitoringWhen 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 Methylmalonic Aciduria And Homocystinuria Cb1l Type C5975387?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy