systemic primary carnitine deficiency disease

Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

Also known as: CDSP, CUD, Carnitine deficiency, Carnitine transporter defect, Carnitine uptake deficiency, SPCD

Category: General

What is systemic primary carnitine deficiency disease?

systemic primary carnitine deficiency disease is a recognized medical condition. This page explains what it is, symptoms that may accompany it, and the lab tests healthcare providers sometimes use to investigate it. It is educational information only and is not a diagnosis.

If you think you may have systemic primary carnitine deficiency disease, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with systemic primary carnitine deficiency disease

ConfusionDiarrheaExcessive daytime somnolenceFailure to thriveMuscle weaknessProximal muscle weaknessVomiting

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.