Carnitine-acylcarnitine translocase deficiency: What Patients Should Know
By Dr. Khalid Wright, DO · · Endocrinology and Metabolism
This article from Weyland-Yutani Health System's Endocrinology and Metabolism service line explains carnitine-acylcarnitine translocase deficiency in plain language.
About this topic
Topic: carnitine-acylcarnitine translocase deficiency. A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound…
Related care
- ultrasound therapy
- genitourinary agent therapy
- Langerhans cell morphology measurement
- biopsy of pituitary gland
This article is for general information and does not replace advice from your clinician.