ESPE Abstracts

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disease characterized by disorders of fatty acid, branched-chain amino acid and energy metabolism. It can be manifested as hypoketo hypoglycemia, metabolic acidosis, muscle weakness, cardiomyopathy and so on. In terms of treatment, patients with MADD need to rely on a high-carbohydrate, low-fat and low-protein diet to improve energy metabolism disorders. At present, there are no clinical reports of MADD complicated with diabetes, so little attention has been paid to the glucose tolerance of such patients. The authors hope to improve the clinical understanding of blood glucose monitoring and management in MADD patients by reporting the first case of late-onset MADD complicated with abnormal glucose metabolism.

Methods: The disease was diagnosed by plasma acylcarnitine detection and whole exome sequencing. The causes of glucose metabolism disorders were analyzed by continuous glucose.

Results: An adolescent female with the onset of persistent myalgia and weakness after intense exercise. Serum biochemical tests after admission showed Creatine Kinase (CK) and lactic dehydrogenase (LDH). LDH, glutamic-pyruvic transaminase (ALT) and glutamic-oxalacetic transaminase (AST) were increased. At the beginning of diagnosis and treatment, CK, LDH, ALT and AST were gradually increased after steroid, Tianqingmei and Atomolam were used, and rhabdomyolysis (CK > 1000U/L) occurred, and the disease progression was terminated after plasma exchange. Subsequent acylcarnitines spectrum analysis showed that the levels of a variety of medium and long chain acylcarnitines increased. The whole exome showed heterozygous ETFDH mutation (c.250G>A, c.1395T>G), which confirmed the diagnosis of late-onset MADD. In the middle stage of diagnosis and treatment, the symptoms were improved after diet control, vitamin B2, L-carnitine and coenzyme Q10 treatment, but the muscle enzymes and liver enzymes still did not return to normal. Fasting blood glucose monitoring showed that the child had hyperglycemia after admission, and glucose tolerance test showed that the 2-hour blood glucose was 20.1mmol/L, so the child was diagnosed with diabetes. After insulin was added at the later stage of diagnosis and treatment, the symptoms of the child were completely relieved, and the muscle and liver enzymes returned to normal quickly.

Conclusion: In this paper, the diagnosis and treatment of the first case of MADD with steroid diabetes emphasized the importance of blood glucose and glucose tolerance testing in MADD patients.