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Biotinidase deficiency

Just diagnosed with Biotinidase deficiency?

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

Open the full Biotinidase deficiency hub →

Overview

Biotinidase deficiency is a rare condition. Also known as Juvenile-onset multiple carboxylase deficiency, Late-onset multiple carboxylase deficiency. Tomeko brings together the specialists, research, clinical trials, treatments and community for Biotinidase deficiency so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.

Identifiers: ORPHA:79241 · OMIM 253260 · ICD-10 E53.8 · GARD 0000894

Find care for Biotinidase deficiency

Authoritative references for Biotinidase deficiency

Common questions

I was just diagnosed with Biotinidase deficiency — what should I do first?

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

Where can I find a specialist for Biotinidase deficiency?

Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Biotinidase deficiency, filtered to your area.

Are there clinical trials for Biotinidase deficiency?

Tomeko shows live, recruiting studies for Biotinidase deficiency 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