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GTR Home > Conditions/Phenotypes > Myopathy with abnormal lipid metabolism

Myopathy with abnormal lipid metabolism

Synonyms
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency

Summary

Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by Olsen et al., 2016). [from OMIM]

Available tests

27 tests are in the database for this condition.

Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FAD1, FADS, LSMFLAD, PP591, FLAD1
    Summary: flavin adenine dinucleotide synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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