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Citrullinemia type I

Specialists and centers, recruiting clinical trials, patient organizations, research, and community for Citrullinemia type I — brought together in one place.

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Just diagnosed with Citrullinemia type I?

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

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Overview

Citrullinemia type I is a rare condition. Also known as ASS deficiency, Argininosuccinate synthase deficiency, Argininosuccinate synthetase deficiency, Argininosuccinic acid synthase deficiency, Argininosuccinic acid synthetase deficiency, CTLN1, Citrullinemia type 1, Classic citrullinemia. Tomeko brings together the specialists, research, clinical trials, treatments and community for Citrullinemia type I so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.

Identifiers: ORPHA:247525 · OMIM 215700 · ICD-10 E72.2 · GARD 0006114

Find care for Citrullinemia type I

Authoritative references for Citrullinemia type I

Research & market landscape for Citrullinemia type I

Following Citrullinemia type I for research or industry? Tomeko brings together the recruiting trials, the latest literature, patient organizations, and the specialist and care-center footprint for Citrullinemia type I — 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 Citrullinemia type I and every rare condition. See how Tomeko works with industry →

Common questions

What is Citrullinemia type I?

Citrullinemia type I is a rare condition. Also known as ASS deficiency, Argininosuccinate synthase deficiency, Argininosuccinate synthetase deficiency, Argininosuccinic acid synthase deficiency, Argininosuccinic acid synthetase deficiency, CTLN1, Citrullinemia type 1, Classic citrullinemia. For an authoritative medical description see the reference sources on this page; Tomeko brings the specialists, clinical trials, patient organizations and community for Citrullinemia type I together in one place.

What are the symptoms of Citrullinemia type I?

Symptoms of Citrullinemia type I 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 Citrullinemia type I.

How is Citrullinemia type I treated?

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

What causes Citrullinemia type I — is it genetic?

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

I was just diagnosed with Citrullinemia type I — what should I do first?

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

Where can I find a specialist for Citrullinemia type I?

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

Are there clinical trials for Citrullinemia type I?

Tomeko shows live, recruiting studies for Citrullinemia type I from ClinicalTrials.gov on the hub.

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