Other Names for this Disease
- Booth-Haworth-Dilling syndrome
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive
- Mitochondrial encephalomyopathy - aminoacidopathy
- Mitochondrial encephalomyopathy aminoacidopathy
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Tests & Diagnosis
On this page
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.