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- W4378348714 abstract "Lipid storage myopathy due to flavin adenine dinucleotide synthetase 1 (FLAD1) deficiency is an autosomal recessive error of metabolism that causes variable mitochondrial dysfunction.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 FLAD1 gene was identified as homozygous.In general, it is expected that the treatment of type 2 FLAD1 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.Checking the FLAD1 gene is recommended in all people with multiple acyl-CoA dehydrogenase deficiency." @default.
- W4378348714 created "2023-05-27" @default.
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- W4378348714 date "2023-05-01" @default.
- W4378348714 modified "2023-10-01" @default.
- W4378348714 title "Detection of FLAD1 mutations and lipid storage myopathy in a 5-year-old boy: a case report study." @default.
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- W4378348714 doi "https://doi.org/10.1097/ms9.0000000000000561" @default.
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