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Disease found: | Acidemia (Methylmalonic) |
Current as of: | October 8, 2024 |
Disease Overview: | Genetic disease caused by defects in the metabolism of four amino acids (methionine, threonine, isoleucine and valine) [more info] |
Signs and Symptoms: | Lethargy, failure to thrive, recurrent vomiting, acidosis, dehydration, respiratory distress, diminished muscle tone, developmental retardation, seizures and/or an enlarged liver [more info] |
Diagnosis: | Methylmalonic acid levels elevated upon amniocentesis or chorionic villus sampling [CVS] [more info] |
Treatment: | Symptom specific |
Clinical Management: | Low-protein diet with avoidance of specific amino acids, supplementation with medical foods for nutritional balance, and administration of vitamin B12 in responsive variants to correct metabolic defects [more info] |
Referral: | ~1700 doctors worldwide [more info]; via patient organizations [more info]. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
Clinical Trials: | 7 currently recruiting [more info] |