Features include always present findings: Difficulty breathing (respiratory insufficiency), Decreased activity of mitochondrial complex I, and Decreased activity of mitochondrial complex IV; and sometimes findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Sideways curvature of the spine (scoliosis), Heart muscle disease (cardiomyopathy), and Supraventricular tachycardia. 15 total HPO annotations.

FLAD1 encodes flavin adenine dinucleotide synthetase 1 (587 aa). This enzyme has two activities: FAD diphosphatase activity and FAD synthase activity. FAD diphosphatase acts on FAD and NADH to produce FMN and NMNH(2-), respectively. Highest expression in Skin Not Sun Exposed Suprapubic (24.3 TPM) and Skin Sun Exposed Lower leg (24.2 TPM).

Myopathy with abnormal lipid metabolism is caused by mutations in the FLAD1 gene on chromosome 1.

FLAD1 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for FLAD1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for myopathy with abnormal lipid metabolism has been reported in the published literature.

Phenotype severity distribution: 3 always present features.

No clinical trials have been registered for myopathy with abnormal lipid metabolism.

25 publications have been identified in PubMed for myopathy with abnormal lipid metabolism. Research spans Case Report / Case Series (36%), Review / Meta-Analysis (16%), and Basic Science / Preclinical (16%).