TREATMENT WITH MCT MILK FOR A PATIENT WITH MILDER CHILD FORM OF VLCAD DEFICIENCY

Hayashi K, Doi T, Abo W.

Aomori Central Hospital, Aomori, Japan

 

Introduction: Milder child form is one of the three forms of VLCAD (very long-chain acyl-CoA dehydrogenase) deficiency, others are severe childhood form and adult form. In the milder child form, characterized by a later onset of symptoms, the main features are hypoketotic hypoglycemia and rarely cardiomyopathy.

Case report: Our patient was an 8-year-old Japanese boy with milder child form of VLCAD deficiency. He had admitted for 11 times in his life. Almost all times, he presented vomiting, poor appetite and severe malaise, but he never showed ketonuria. Blood data showed elevated serum AST, ALT and CK levels. Study of the patient cultured skin fibroblasts revealed that his acyl-CoA dehydrogenase activity was low at 13% of the control value.

Treatment: The patient was treated with only L-carnitine (45 mg/kg /day), but not dietary MCT milk during the 1 month after establishing the diagnosis of VLCAD deficiency. During this period the patient had several episodes of lethargy, muscle weakness, and muscle pain, especially after exercise. So, we added 1.5 g/kg/day of MCT milk. After supplementation of MCT milk, his fatty liver and cardiac function were almost getting normal. Furthermore, we gained the MCT milk 3 g/kg/day and then his condition was getting better.

Conclusion: MCT milk was very effective for this patient with milder form of VLCAD deficiency.

 

 

 
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