| Disease ID | Source | Name | Description |
| 255100 | OMIM | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD) | An autosomal recessive, inborn error of metabolism characterized by variable mitochondrial dysfunction. Clinical features range from severe cardiac and respiratory insufficiency with onset in infancy and resulting in early death, to mild muscle weakness with onset in adulthood. Some patients show significant improvement with riboflavin treatment. Analysis of skeletal muscle show multiple mitochondrial respiratory chain deficiency and a lipid storage myopathy in most patients. The disease is caused by variants affecting the gene represented in this entry. |