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Intermediate maple syrup urine disease

Just diagnosed with Intermediate maple syrup urine disease?

You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Intermediate maple syrup urine disease, look for clinical trials, and connect with others living with it — all in one place.

Open the full Intermediate maple syrup urine disease hub →

Overview

Intermediate maple syrup urine disease is a rare condition. Also known as Intermediate BCKD deficiency, Intermediate MSUD, Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency. Tomeko brings together the specialists, research, clinical trials, treatments and community for Intermediate maple syrup urine disease so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.

Identifiers: ORPHA:268162 · OMIM 248600, 615135, 620698 · ICD-10 E71.0 · GARD 0017264

Find care for Intermediate maple syrup urine disease

Authoritative references for Intermediate maple syrup urine disease

Common questions

I was just diagnosed with Intermediate maple syrup urine disease — what should I do first?

Start by learning the basics from an authoritative source, find a specialist or center that sees Intermediate maple syrup urine disease, and connect with a patient organization. Tomeko brings these together on one hub.

Where can I find a specialist for Intermediate maple syrup urine disease?

Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Intermediate maple syrup urine disease, filtered to your area.

Are there clinical trials for Intermediate maple syrup urine disease?

Tomeko shows live, recruiting studies for Intermediate maple syrup urine disease 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