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What is Carnitine transporter deficiency?

What is Carnitine transporter deficiency?

  • Carnitine transporter deficiency: An inherited deficiency of carnitine caused by the impaired ability of the carnitine transporter protein to carry the carnitine to where it is needed. Instead the carnitine is excreted through the urine. Fasting or illness can trigger a severe attack.

Carnitine transporter deficiency: Introduction

Types of Carnitine transporter deficiency:

Broader types of Carnitine transporter deficiency:

How many people get Carnitine transporter deficiency?

Prevalance of Carnitine transporter deficiency: 1 per 40,000 newborns suffer from primary carnitine deficiency in Japan, Genetics Home Reference website
Prevalance Rate of Carnitine transporter deficiency: approx 1 in 40,000 or 0.00% or 6,800 people in USA [about data]

Who gets Carnitine transporter deficiency?

Racial predominance for Carnitine transporter deficiency: Japanese populations

How serious is Carnitine transporter deficiency?

Complications of Carnitine transporter deficiency: see complications of Carnitine transporter deficiency

What causes Carnitine transporter deficiency?

Causes of Carnitine transporter deficiency: see causes of Carnitine transporter deficiency

What are the symptoms of Carnitine transporter deficiency?

Symptoms of Carnitine transporter deficiency: see symptoms of Carnitine transporter deficiency

Complications of Carnitine transporter deficiency: see complications of Carnitine transporter deficiency

Onset of Carnitine transporter deficiency: usually early childhood

Can anyone else get Carnitine transporter deficiency?

More information: see contagiousness of Carnitine transporter deficiency
Inheritance: see inheritance of Carnitine transporter deficiency

Carnitine transporter deficiency: Testing

Misdiagnosis: see misdiagnosis and Carnitine transporter deficiency.

How is it treated?

Doctors and Medical Specialists for Carnitine transporter deficiency: Medical Geneticist ; see also doctors and medical specialists for Carnitine transporter deficiency.
Treatments for Carnitine transporter deficiency: see treatments for Carnitine transporter deficiency

Name and Aliases of Carnitine transporter deficiency

Main name of condition: Carnitine transporter deficiency

Other names or spellings for Carnitine transporter deficiency:

primary systemic carnitine deficiency, carnitine uptake defect, carnitine uptake deficiency, CUD, renal carnitine transport defect, systemic carnitine deficiency, Carnitine deficiency, systemic primary, Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine, Carnitine deficiency, primary, Carnitine transporter, plasma-membrane, deficiency of, SCD, CDSP, Carnitine brain transporter deficiency

Carnitine transporter deficiency: Related Conditions

Research the causes of these diseases that are similar to, or related to, Carnitine transporter deficiency:

 

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