ArticleJIMD reports2019
A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy.
Article in JIMD reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review.Journal of inherited metabolic disease · 2026Pooled it
- A familial case of FLAD1 protein deficiency associated with impaired adrenal steroidogenesis.JCI insight · 2026Article
- Revitalising Riboflavin: Unveiling Its Timeless Significance in Human Physiology and Health.Foods (Basel, Switzerland) · 2024Review
- Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations.Molecular genetics and genomics : MGG · 2024Article
- A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene.Journal of human genetics · 2024Article
- New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases.Nutrition & metabolism · 2023Review
- Detection ofAnnals of medicine and surgery (2012) · 2023Article
- Combined isobutyryl-CoA and multiple acyl-CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis.JIMD reports · 2022Article
- Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.JIMD reports · 2021Article
- Role of RNA in Molecular Diagnosis of MADD Patients.Biomedicines · 2021Article
- Alteration of Flavin Cofactor Homeostasis in Human Neuromuscular Pathologies.Methods in molecular biology (Clifton, N.J.) · 2021Review
- Continuous and Discontinuous Approaches to Study FAD Synthesis and Degradation Catalyzed by Purified Recombinant FAD Synthase or Cellular Fractions.Methods in molecular biology (Clifton, N.J.) · 2021Article
- Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.Medicine · 2020Review
- Mitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to Treatment.Journal of lipid and atherosclerosis · 2020Review
- Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy.International journal of molecular sciences · 2020Review
- Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.International journal of molecular sciences · 2020Review
- A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.BMC medical genetics · 2020Article
- Flavins Act as a Critical Liaison Between Metabolic Homeostasis and Oxidative Stress in the Retina.Frontiers in cell and developmental biology · 2020Review
- Mutation of Aspartate 238 in FAD Synthase Isoform 6 Increases the Specific Activity by Weakening the FAD Binding.International journal of molecular sciences · 2019Article
- FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
7 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II (GAII) is a clinically heterogeneous disorder affecting fatty acid and amino acid metabolism. Presentations range from a severe neonatal form with hypoglycemia, metabolic acidosis, and hepatomegaly with or without congenital anomalies to later-onset lipid storage myopathy. Genetic testing for MADD traditionally comprises analysis of ETFA, ETFB, and ETFDH. Patients may respond to pharmacological doses of riboflavin, particularly those with late-onset MADD due to variants in ETFDH. Increasingly other genes involved in riboflavin transport and flavoprotein biosynthesis are recognized as causing a MADD phenotype. Flavin adenine dinucleotide synthase (FADS) deficiency caused by biallelic variants in FLAD1 has been identified in nine previous cases of MADD. 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. Herein we describe a novel, truncating variant in FLAD1 causing MADD in an 8-year-old boy. Fibroblast studies showed a dramatic reduction in FADS protein with corresponding reduction in the FAD synthesis rate and FAD cellular content, beyond that previously documented in FLAD1-related MADD. There was apparent biochemical and clinical response to riboflavin treatment, beyond that previously reported in cases of biallelic loss of function variants in FLAD1. Early riboflavin treatment may have attenuated an otherwise severe phenotype.
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