| Disease ID | Source | Name | Description |
| 615026 | OMIM | Riboflavin deficiency (RBFVD) | A disorder caused by a primary defect in riboflavin metabolism, or by dietary riboflavin deficiency. Riboflavin deficiency during pregnancy results in hypoglycemia, metabolic acidosis, dicarboxylic aciduria and elevated plasma acylcarnitine levels in the newborn. Treatment with oral riboflavin results in complete resolution of the clinical and biochemical findings. The disease is caused by variants affecting the gene represented in this entry. |