5C52.00

Disorders of carnitine transport or the carnitine cycle

Distúrbios do transporte da carnitina ou do ciclo da carnitina

Category

Index Terms

Disorders of carnitine transport or the carnitine cycleCarnitine transporter deficiencyCarnitine brain transporter deficiencyCarnitine uptake deficiencyPrimary carnitine deficiencyCarnitine palmitoyltransferase I deficiencyLiver form of carnitine palmitoyltransferase deficiencyCPT1 - [Carnitine palmitoyltransferase I] deficiencyCarnitine palmitoyltransferase II deficiencyCPT2 - [Carnitine palmitoyltransferase II] deficiencyCarnitine palmitoyltransferase II deficiency, myopathic formCarnitine palmitoyltransferase II deficiency, severe infantile formCarnitine palmitoyltransferase II deficiency, neonatal formCarnitine-acylcarnitine translocase deficiencyMuscle carnitine deficiencyMuscle carnitine palmityltransferase deficiency