Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency

Area of Science:

• Biochemistry
• Genetics
• Metabolic Disorders

Background:

• Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inherited metabolic disorder affecting fatty acid oxidation.
• Riboflavin (vitamin B2) is a crucial cofactor for several enzymes involved in MADD.
• Transient forms of MADD have been reported, often linked to riboflavin deficiency.

Observation:

• A newborn female presented with MADD, which resolved rapidly after riboflavin supplementation.
• Fibroblast studies and gene sequencing in the infant excluded primary defects in MADD-related enzymes (ETF, ETF:QO) or flavin metabolism.
• The infant's mother was found to be persistently riboflavin deficient, even two years postpartum.

Findings:

• The infant's MADD was likely secondary to maternal riboflavin deficiency, not a primary genetic defect in the infant.
• Genetic analysis of key riboflavin transport and metabolism genes in the mother did not reveal pathogenic mutations.
• The mother's persistent riboflavin deficiency and potential underlying metabolic defect remain uncharacterized.

Implications:

• This case highlights the importance of assessing maternal nutritional status in cases of suspected inherited metabolic disorders in newborns.
• Maternal riboflavin deficiency can lead to transient MADD in infants, mimicking primary genetic forms of the disorder.
• Further investigation is needed to elucidate the molecular basis of the mother's riboflavin metabolism defect.