Endocrine Abstracts

Carnitine palmitoyl transferase II (CPT II) deficiency is a rare inherited metabolic disorder affecting the mitochondrial beta-oxidation of long-chain fatty acids, which may manifest as recurrent episodes of muscle pain, weakness, and myoglobinuria, often triggered by prolonged exercise, fasting, or illness. Diagnosis is typically confirmed through enzyme assays, genetic testing with muscle biopsy and elevated creatine kinase (CK) levels supporting the diagnosis during acute episodes. Management focuses on preventing episodes through dietary modifications, such as a high-carbohydrate, low-fat diet, and avoiding known triggers. Early recognition and treatment are essential to improving patient outcomes and preventing complications such as rhabdomyolysis and acute kidney injury. We present the case of a 34-year-old female with a background of poorly controlled type 1 diabetes mellitus (T1DM) who was admitted with severe muscle aches following a short walk, along with dark urine and significantly elevated creatine kinase (CK) levels. Her family history was notable for CPT II deficiency. Subsequent investigations revealed a new deficiency in carnitine palmitoyl transferase II (CPT II). She made a rapid recovery with Glucose infusions and oral Glucose polymers. This novel case highlights the need to consider a broad differential diagnosis including metabolic myopathies in the evaluation of severe Rhabdomyolysis. The potential challenges of managing CPTII deficiency in a patient with T1DM would also be discussed.