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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]

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