When to See a Specialist About Carnitine-acylcarnitine translocase deficiency

By Dr. Lin Chowdhury, DO · 2024-12-27 · Endocrinology and Metabolism

Patients often ask us about carnitine-acylcarnitine translocase deficiency. Here is what our Endocrinology and Metabolism clinicians want you to know.

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…

Mentioned in this article

• ultrasound therapy
• biopsy of pituitary gland

Related care

• genitourinary agent therapy
• Langerhans cell morphology measurement

This article is for general information and does not replace advice from your clinician.