Metaphyseal Chondromatosis With D 2 Hydroxyglutaric Aciduria C3553958
An extremely rare genetic condition combining bone growth abnormalities with a metabolic problem that causes elevated acids in the body, severely affecting multiple systems.
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
Metaphyseal chondromatosis (skeletal dysplasia)
(metabolic)Elevated D-2-hydroxyglutaric acid in urine
(metabolic)Developmental delay
(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
L-carnitine supplementation
Carnitine supplementation helps support mitochondrial function and may improve metabolic processing of D-2-hydroxyglutaric acid. This oral supplementation is typically given daily to support cellular energy metabolism.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Protein-restricted metabolic diet
Dietary management through controlled protein intake reduces the accumulation of harmful metabolites. Specialized metabolic formulas may be prescribed to ensure adequate nutrition while limiting precursor amino acids.
Additional treatment options
Regular biochemical and developmental monitoring
Scheduled laboratory assessments of D-2-hydroxyglutaric acid levels and comprehensive developmental evaluations help track disease progression and treatment efficacy. Imaging studies monitor skeletal involvement.
monitoringPhysical and occupational therapy
Targeted therapy programs address motor delays, joint mobility issues, and functional limitations associated with metaphyseal abnormalities. Therapy is customized based on individual skeletal involvement and developmental stage.
physical_therapyOrthopedic intervention for skeletal deformities
Surgical correction of limb deformities, joint abnormalities, or spinal involvement may be necessary when conservative measures are insufficient. Timing depends on growth patterns and severity of deformity.
surgicalWhen 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 Metaphyseal Chondromatosis With D 2 Hydroxyglutaric Aciduria C3553958?
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