Ayse Yasemin Celik, Ciğdem Seher Kasapkara, Burcu Civelek Urey, Esra Kılıc, Nesrin Ceylan, Bekir Furkan Yalcın, Didem Ardicli

Introduction: Multiple acyl-CoA dehydrogenase deficiency is a rare inherited metabolic disorder of fatty acid, amino acid, and choline metabolism, caused by recessive mutations in the ETFA, ETFB, and ETFDH genes. Herein, we present a case of late-onset MADD, who presented with neck weakness and episodes of vomiting. Case presentation: An 11-year-old boy presented with vomiting attacks, easy fatigue, and weight loss for the last 6 months. He was referred to our hospital for further investigation with a suspicion of a possible malignancy. Prenatal, natal, and developmental history was normal. Family history revealed parental consanguinity and a deceased sibling at the age of 3 years following a febrile infection. On neurological examination, he had prominent cervical and proximal weakness, nasal speech, dysphagia, and absent deep tendon reflexes. Laboratory workup showed elevated transaminase (AST/ALT: 1645/895 U/L) and serum creatinine kinase levels (2389 U/L). Metabolic tests showed characteristic acylcarnitine profile suggestive of MADD deficiency. Molecular analysis of the ETFDH gene confirmed a homozygous pathogenic variant c.1130T>C (p.Leu377Pro). He showed dramatic improvement to high-dose riboflavine, coenzyme Q 10, and carnitine supplementations. On sixth month follow-up, he had normal systemic and neurological examination without any symptoms. Conclusion: Since it is a treatable disorder, the diagnosis of MADD deficiency should be considered especially in patients presenting with fluctuating proximal/axial weakness, episodic vomiting, and easy fatigue. Early treatment with dietary regulations, high-dose riboflavin, carnitine supplementation in those with carnitine deficiency, and coenzyme Q10 supplementation is life-saving.
Keywords: MADD, metabolic myopathy, ETFDH, episodic vomiting

Ayse Yasemin Celik
Ankara City Hospital
Turkey

Ciğdem Seher Kasapkara
Ankara City Hospital
Turkey

Burcu Civelek Urey
Ankara City Hospital
Turkey

Esra Kılıc
Ankara City Hospital
Turkey

Nesrin Ceylan
Ankara City Hospital
Turkey

Bekir Furkan Yalcın
Ankara City Hospital
Turkey

Didem Ardicli
Ankara City Hospital
Turkey