What is Creatine deficiency, X-linked?

What is Creatine deficiency, X-linked?

• Creatine deficiency, X-linked: A rare inherited disorder characterized mainly by mental retardation, seizures, short stature and facial anomalies. The disorder is caused by the absence of a compound needed to transport creatine and thus creatine levels may be normal or high, but the body is unable to utilize it.

Creatine deficiency, X-linked is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Creatine deficiency, X-linked, or a subtype of Creatine deficiency, X-linked, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Creatine deficiency, X-linked: Introduction

Types of Creatine deficiency, X-linked:

Broader types of Creatine deficiency, X-linked:

• Genetic conditions
• Metabolic conditions
• Congenital conditions - metabolic disorders
• Congenital conditions
• more types...»

What causes Creatine deficiency, X-linked?

Causes of Creatine deficiency, X-linked: see causes of Creatine deficiency, X-linked

What are the symptoms of Creatine deficiency, X-linked?

Symptoms of Creatine deficiency, X-linked: see symptoms of Creatine deficiency, X-linked

Onset of Creatine deficiency, X-linked: childhood

Creatine deficiency, X-linked: Testing

Diagnostic testing: see tests for Creatine deficiency, X-linked.

Misdiagnosis: see misdiagnosis and Creatine deficiency, X-linked.

How is it treated?

Doctors and Medical Specialists for Creatine deficiency, X-linked: Medical Geneticist ; see also doctors and medical specialists for Creatine deficiency, X-linked.
Treatments for Creatine deficiency, X-linked: see treatments for Creatine deficiency, X-linked

Name and Aliases of Creatine deficiency, X-linked

Main name of condition: Creatine deficiency, X-linked

Mental retardation , X-linked with seizures, short stature and midface hypoplasia, Mental retardation , X-linked, with creatine transport deficiency, X-linked creatine transporter deficiency, X-linked creatine deficiency syndrome, Creatine transporter deficiency, creatine deficiency syndrome, X-linked

Mental retardation , X linked with seizures, short stature and midface hypoplasia, Mental retardation , X linked, with creatine transport deficiency, X-linked creatine deficiency syndrome, X-linked creatine transporter deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

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