Systemic primary carnitine deficiency CDSP is an autosomal recessive disorder of carnitine transportation. The clinical manifestations of CDSP can vary widely with respect to age of onset, organ involvement, and severity of symptoms, but are typically characterized by episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia in infants; skeletal myopathy, elevated creatine kinase CKand cardiomyopathy in childhood; or cardiomyopathy, arrhythmias, or fatigability in adulthood. The incidence of CDSP varies depending on ethnicity; however the frequency in the United States is estimated to be approximately 1 in 50, individuals based on newborn screening data.
Back to Home. This fact sheet contains general information about CTD. Every child is different and some of this information may not apply to your child specifically.
The incidence of primary carnitine deficiency in the general population is approximately 1 innewborns. In Japan, this disorder affects 1 in every 40, newborns. The incidence of CDSP varies depending on ethnicity.
Carnitine deficiency results from inadequate intake of or inability to metabolize the amino acid carnitine. It can cause a heterogeneous group of disorders. Muscle metabolism is impaired, causing myopathy, hypoglycemia, or cardiomyopathy. Infants typically present with hypoglycemic, hypoketotic encephalopathy.
Carnitine deficiency is a condition that prevents the body from using various types of fats for energy. There are two types of carnitine deficiency including primary and secondary. Primary carnitine deficiency is a rare condition that particularly occurs during times during fasting.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
Systemic primary carnitine deficiency SPCD is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine across the plasma membrane. Carnitine is an important amino acid for fatty acid metabolism. SPCD is inherited in an autosomal recessive manner, with mutated alleles coming from both parents.
Please take this quick survey to tell us about what happens after you publish a paper. Journal of Inherited Metabolic Disease. Summary: Carnitine deficiency is a secondary complication of many inborn errors of metabolism.
Will you find ways to support 30 Days of Strength? Carnitine deficiency is one of a group of metabolic muscle diseases that interferes with the processing of food in this case, fats for energy production. If confined to muscles, this disease causes weakness in the hips, shoulders, and upper arms and legs.