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Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Just diagnosed with Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria?

You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, look for clinical trials, and connect with others living with it — all in one place.

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Overview

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is a rare condition. Also known as Booth-Haworth-Dilling syndrome, Mitochondrial encephalomyopathy-aminoacidopathy syndrome, mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria. Tomeko brings together the specialists, research, clinical trials, treatments and community for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.

Identifiers: ORPHA:1933 · OMIM 612073 · ICD-10 G71.3 · GARD 0003681

Find care for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Authoritative references for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Common questions

I was just diagnosed with Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria — what should I do first?

Start by learning the basics from an authoritative source, find a specialist or center that sees Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, and connect with a patient organization. Tomeko brings these together on one hub.

Where can I find a specialist for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria?

Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, filtered to your area.

Are there clinical trials for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria?

Tomeko shows live, recruiting studies for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria from ClinicalTrials.gov on the hub.

Informational only — not medical advice. Always consult a qualified clinician. Provider and reference data from public sources (NIH GARD, Orphanet, OMIM, HPO, MONDO, ClinicalTrials.gov, CMS NPPES). © Tomeko · tomekohealth.com