Related Experiment Video
Updated: Jul 29, 2025
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Detection of FLAD1 mutations and lipid storage myopathy in a 5-year-old boy: a case report study
Seyed Ahmad Hosseini1, Layla Shojaie2, Mousa Ghelichi-Ghojogh3
1Department of Pediatrics, Neonatal and Children's Health Research Center Research Center, Golestan University of Medical Science, Gorgan, Iran.
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.
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 FLAD1 gene was identified as homozygous.
Clinical Discussion:
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.
Conclusion:
Checking the FLAD1 gene is recommended in all people with multiple acyl-CoA dehydrogenase deficiency.
Insights
Flavin adenine dinucleotide synthetase 1 (FLAD1) deficiency causes lipid storage myopathy and mitochondrial dysfunction. Early diagnosis and genetic testing are crucial for understanding disease severity and treatment response.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Lipid storage myopathy is an autosomal recessive metabolic disorder.
- FLAD1 deficiency leads to variable mitochondrial dysfunction.
- Genetic variants in FLAD1 are implicated in this condition.
Purpose of the Study:
- To investigate a case of lipid storage myopathy due to FLAD1 deficiency.
- To analyze the genetic basis and clinical presentation of FLAD1 deficiency.
- To discuss the implications of FLAD1 variants on treatment response.
Main Methods:
- Case presentation of a pediatric patient with movement abnormalities.
- Carrier detection for spinal muscular atrophy.
- Whole-exome sequencing to identify homozygous pathogenic variants in FLAD1.
Main Results:
- A homozygous pathogenic variant (c.A554T:p.D185V) in exon-2 of FLAD1 was identified.
- The patient presented with motor deficits including Gower's sign.
- Exon-2 FLAD1 mutations appear more severe and less responsive to riboflavin treatment.
Conclusions:
- FLAD1 deficiency is a significant cause of lipid storage myopathy.
- Genetic testing of FLAD1 is recommended for patients with multiple acyl-CoA dehydrogenase deficiency.
- Understanding FLAD1 genotype-phenotype correlations is vital for prognosis and management.
