Normalization of short‐chain acylcoenzyme a dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme a dehydrogenase—deficient myopathy

  title={Normalization of short‐chain acylcoenzyme a dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme a dehydrogenase—deficient myopathy},
  author={Stefano Didonato and Cinzia Gellera and Dionisio Peluchetti and Graziella Uziel and Antonella Antonelli and Giacomo Lus and Marco Rimoldi},
  journal={Annals of Neurology},
A 12‐year‐old girl was shown to have carnitine‐deficient lipid storage myopathy and organic aciduria compatible with multiple acylcoenzyme A (acyl‐CoA) dehydrogenase deficiency. In muscle mitochondria, activities of both short‐chain acyl‐CoA dehydrogenase (SCAD) and medium‐chain acyl‐CoA dehydrogenase (MCAD) were 35% of normal. Antibodies against purified SCAD, MCAD, and electron‐transfer flavoprotein were used for detection of cross‐reacting material (CRM) in the patient's mitochondria… 

Late‐onset riboflavin‐responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency

It is concluded that some lipid storage myopathies can show dramatic response to riboflavin, and rib oflavin treatment in a 69-year-old patient with late-onset myopathy dramatically improved and morphologic changes in muscle disappeared.

Hereditary protein C deficiency associated with riboflavin‐responsive lipid storage myopathy

The treatment was found to restore fatty acid oxidation in fresh muscle homogenate, deficient acylCoA‐dehydrogenases in mitochondria and decrease lipid droplets.

Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Treatment with 200 mg of riboflavin per day led to a dramatic clinical improvement with restoration of normal respiration and an increase in muscular tone within 2 months, and metabolite excretion in urine completely normalized.

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

This is the largest collection of riboflavin-responsive MADD patients ever reported, and the first demonstration of the molecular genetic basis for the disorder.

Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies.

Plasma acyl-carnitine and urinary organic acid profiles indicated multiple acyl coenzyme A dehydrogenase deficiency, which was mild in patient 1 and severe in patient 2, and biochemical parameters were either totally or partly corrected after riboflavin therapy.

Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD)

  • M. Bennett
  • Medicine, Biology
    Journal of Inherited Metabolic Disease
  • 2012
In this volume ofJIMD, Haack et al 2012, demonstrating the power of wholeexome sequencing identified disease-causing mutations in athird riboflavin transporter in an individual with BVVLS.



Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness.

Genetic deficiency of short-chain acyl-coenzyme A (CoA) dehydrogenase activity was demonstrated in cultured fibroblasts from a 2-yr-old female whose early postnatal life was complicated by poor feeding, emesis, and failure to thrive, and antibody against that enzyme could be used to unmask the specific and virtually complete deficiency.

Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients.

Monospecific medium-chain ADH (MCADH) antisera inhibited MCADH activity towards both butyryl- and octanoyl-CoAs, revealing SCADH activities to be 1 and 11% of control for neonates I and II, respectively.

Genetic Deficiency of Medium-Chain Acyl Coenzyme A Dehydrogenase: Studies in Cultured Skin Fibroblasts and Peripheral Mononuclear Leukocytes

The value of cultured fibroblasts and leukocytes in the diagnosis and evaluation of inherited disorders of fatty acid oxidation is demonstrated.

Glutaric Aciduria Type II: Evidence for a Defect Related to the Electron Transfer Flavoprotein or Its Dehydrogenase

Summary: Incubation of intact fibroblasts from a patient with glutaric aciduria type II with [2-14C]riboflavin showed normal synthesis of flavin mononucleotide and flavin adenine dinucleotide. This

C6—C10-Dicarboxylic Aciduria: Investigations of a Patient with Riboflavin Responsive Multiple Acyl-CoA Dehydrogenation Defects

The abnormal metabolites-adipic, suberic, and sebacic acids-were detected in large amounts in the urine of a boy during a Reye's syndrome-like crisis, suggesting a flavineadeninedinucleotide-related acyl-CoA dehydrogenation defect as the cause of the disease.

Systemic carnitine deficiency due to lack of electron transfer flavoprotein

Carnitine acts as a buffer for excessive accumulation of intramitochondrial acyl CoAs, and defective β-oxidation can cause carnitine insufficiency, and defects in the ETF-QO defect caused massive urinary excretion of the short-chain acylcarnitines that accumulated in mitochondria.

Riboflavin‐responsive lipid‐storage myopathy and glutaric aciduria type II of early adult onset

Riboflavin therapy and a fat-restricted, carbohydrate-enriched diet resulted in dramatic improvement in a 17-year-old girl with progressive lipid-storage myopathy and chemical findings indicated glutaric aciduria type II.

Acyl-CoA dehydrogenase activity in the riboflavin-deficient rat. Effects of starvation.

The studies show that the decreased mitochondrial fatty acid oxidation induced by riboflavin deficiency is partially reversed by starvation, and short-chain acyl-CoA dehydrogenase activity is limiting for fatty acids oxidation when its activity falls below a critical point.