Detection of mutations and lipid storage myopathy in a 5-year-old boy: a case report study.

UNLABELLED

Lipid storage myopathy due to flavin adenine dinucleotide synthetase 1 () deficiency is an autosomal recessive error of metabolism that causes variable mitochondrial dysfunction.

CASE PRESENTATION

At the age of 3, the patient was found to have movement problems, such as difficulty rising from a chair (Gower's sign) and climbing stairs, which led to hospital admission and diagnosis. At the age of 4, carrier detection for spinal muscular atrophy was normal; however, at the age of 5, whole-exome sequencing revealed a pathogenic variant of Chr1: 154960762: A>T c.A554T:p.D185V in exon-2 of gene was identified as homozygous.

CLINICAL DISCUSSION

In general, it is expected that the treatment of type 2 gene mutation with riboflavin has a better prognosis, but these interventions may not be sufficient for the survival of the patient. Treatment with riboflavin has increased various functions, including skeletal-muscular, and cardiovascular function. As a result, like the patient in our study, the mutation in exon-2 is more severe and less responsive to riboflavin treatment.

CONCLUSION

Checking the gene is recommended in all people with multiple acyl-CoA dehydrogenase deficiency.