Title : A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy.

Pub. Date : 2019

PMID : 30311138






3 Functional Relationships(s)
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1 FLAD1 missense mutations have been associated with a riboflavin-responsive phenotype; however the effect of riboflavin with biallelic loss of function FLAD1 mutations required further investigation. Riboflavin flavin adenine dinucleotide synthetase 1 Homo sapiens
2 FLAD1 missense mutations have been associated with a riboflavin-responsive phenotype; however the effect of riboflavin with biallelic loss of function FLAD1 mutations required further investigation. Riboflavin flavin adenine dinucleotide synthetase 1 Homo sapiens
3 There was apparent biochemical and clinical response to riboflavin treatment, beyond that previously reported in cases of biallelic loss of function variants in FLAD1. Riboflavin flavin adenine dinucleotide synthetase 1 Homo sapiens