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Maple syrup urine disease

Specialists and centers, recruiting clinical trials, patient organizations, research, and community for Maple syrup urine disease — brought together in one place.

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Just diagnosed with Maple syrup urine disease?

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

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Overview

Maple syrup urine disease is a rare condition. Also known as BCKD deficiency, BCKDH deficiency, Branched-chain 2-ketoacid dehydrogenase deficiency, Branched-chain ketoaciduria, MSUD. Tomeko brings together the specialists, research, clinical trials, treatments and community for Maple syrup urine disease so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.

Identifiers: ORPHA:511 · OMIM 248600, 615135, 620698 · ICD-10 E71.0 · GARD 0003228

Find care for Maple syrup urine disease

Authoritative references for Maple syrup urine disease

Research & market landscape for Maple syrup urine disease

Following Maple syrup urine disease for research or industry? Tomeko brings together the recruiting trials, the latest literature, patient organizations, and the specialist and care-center footprint for Maple syrup urine disease — the real-world landscape behind the condition, in one place.

Researchers, patient organizations & industry: Tomeko provides de-identified, no-PHI demand and engagement signal, trial awareness, and a labeled, editorially-firewalled presence for Maple syrup urine disease and every rare condition. See how Tomeko works with industry →

Common questions

What is Maple syrup urine disease?

Maple syrup urine disease is a rare condition. Also known as BCKD deficiency, BCKDH deficiency, Branched-chain 2-ketoacid dehydrogenase deficiency, Branched-chain ketoaciduria, MSUD. For an authoritative medical description see the reference sources on this page; Tomeko brings the specialists, clinical trials, patient organizations and community for Maple syrup urine disease together in one place.

What are the symptoms of Maple syrup urine disease?

Symptoms of Maple syrup urine disease vary from person to person. For a reviewed, plain-language overview see the authoritative references below (NIH GARD, Orphanet), and discuss your own symptoms with a clinician who treats Maple syrup urine disease.

How is Maple syrup urine disease treated?

Treatment for Maple syrup urine disease depends on the individual and is managed by specialists. Use Tomeko to find clinicians and Centers of Excellence who see Maple syrup urine disease, and review current options with them.

What causes Maple syrup urine disease — is it genetic?

The cause and inheritance of Maple syrup urine disease are described in the authoritative references linked on this page. A genetics or specialist clinician who treats Maple syrup urine disease can explain what it means for you and your family.

I was just diagnosed with 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 Maple syrup urine disease, and connect with a patient organization. Tomeko brings these together on one hub.

Where can I find a specialist for Maple syrup urine disease?

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

Are there clinical trials for Maple syrup urine disease?

Tomeko shows live, recruiting studies for Maple syrup urine disease from ClinicalTrials.gov on the hub.

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