Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency

Abstract

Multiple acyl-CoA dehydrogenation deficiency (MADD) is an inborn disorder of fatty acid oxidation due to a defect in electron transfer to the respiratory chain. We describe the medical/nutritional management of a successful pregnancy in a 19-year-old woman with a known diagnosis of MADD. A high-carbohydrate, low-fat, six-meal diet supplemented with protein was prescribed to meet the nutritional needs during pregnancy. L-Carnitine supplementation was also progressively increased over the weeks. Serum acyl-carnitine profile revealed raised levels of chain-length C6-C14, which remained substantially unchanged during pregnancy. Serum amino acid profile was in the normal range indicating an adequate nutritional support. Pregnancy progressed uneventful and the patient gave birth to a healthy boy without any complication.A careful clinical monitoring associated with an adequate medical/nutritional management may improve pregnancy outcome in women with MADD.

Glutaric Acidemia, Pathogenesis and Nutritional Therapy

“…GA-II is characterized clinically by hypo- or nonketotic hypo-glycemia and metabolic acidosis, biochemically by accumulation and excretion of substrates (or their derivatives) of the many (at least eight) flavoprotein dehydrogenases which transfer electrons to ETF ( 36 ). Defect of ETF or ETF-QO, the protein which transfers electrons from ETF to the ubiquinone pool of the respiratory chain, results in compromised fatty acid oxidation, with consequent impaired adenosine triphosphate (ATP) synthesis, insufficient gluconeogenesis and excessive lipid accumulation in different organs ( 6 ). Biochemical investigations can demonstrate elevated serum fatty acylcarnitine of various lengths, and a variety of organic acids in urine.…”

“…It has been reported that several young woman with GA-II have given birth to a healthy child without any complication ( 6 , 59 , 60 ). In order to meet the increased protein demand during pregnancy, it may need a six-meal diet high in carbohydrate (>50% of total calories), very low in fat, but supplemented with protein (10 g/day in the 2th trimester and 30 g/day in 3rd trimester) to meet the increased protein demand.…”

“…In order to meet the increased protein demand during pregnancy, it may need a six-meal diet high in carbohydrate (>50% of total calories), very low in fat, but supplemented with protein (10 g/day in the 2th trimester and 30 g/day in 3rd trimester) to meet the increased protein demand. In addition, a glucose supply (25–50g) every 2 h was recommended in case of discomfort or episodic vomiting, along with oral carnitine (3,000 mg/day and increase to 4,000 mg/day because of an increased sense of fatigue), riboflavin (100 mg/day) and pyridoxine (300 mg/day), the clinical and biochemical profile remained substantially stable during pregnancy demonstrates careful clinical monitoring associated with an adequate nutritional and medical management may improve pregnancy outcome in women ( 6 ).…”

“…GA-II is an inherited deficiency of acyl-CoA dehydrogenases, such as short-, medium-, and long-chain acyl CoA dehydrogenases, which is caused by a defect in either electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH) ( 5 ). This defect results in compromised fatty acid, amino acid, and choline metabolism with consequent impaired adenosine triphosphate (ATP) synthesis, insufficient gluconeogenesis and excessive lipid accumulation in different organs ( 6 ). Advances in both nutritional therapy and disease management have considerably improved the clinical outcome of GA.…”

Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review

“…After informed consent from the parents, a genetic test to confirm the diagnosis and to identify the carrier subjects in the family was therefore requested. Molecular analysis of genomic DNA isolated from peripheral whole blood was performed by Sanger sequencing of coding regions, intron/exon boundaries and 5′ and 3′ UTR of ETFA, ETFB , and ETFDH genes, using previously described protocol ( 5 ). Genetic results revealed the presence of the novel missense variant c.1658A > G (p.Tyr553Cys) in exon 12 of the ETFDH gene in the patient, at homozygous state.…”