Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 2 de 2
Filter
Add more filters










Database
Type of study
Language
Publication year range
1.
Neuromuscul Disord ; 27(6): 581-584, 2017 Jun.
Article in English | MEDLINE | ID: mdl-28433476

ABSTRACT

Multiple acyl-CoA dehydrogenation deficiency is genetically heterogenous metabolic disease with mutations in genes involved in electron transfer to the mitochondrial respiratory chain. Disease symptoms vary from severe neonatal form to late-onset presentation with metabolic acidosis, lethargy, vomiting, muscle pain and weakness. Riboflavin therapy has been shown to ameliorate diseases symptoms in some of these patients. Recently, mutations in FAD synthase have been described to cause multiple acyl-CoA dehydrogenation deficiency. We describe here the effect of riboflavin supplementation therapy in a previously reported adult patient with multiple acyl-CoA dehydrogenation deficiency having compound heterozygous gene variations in FLAD1 (MIM: 610595) encoding FAD synthase. We present thorough clinical history including laboratory investigations, muscle MRI, muscle biopsy and spiroergometric analyses comprising of a follow-up of 20 years. Our data suggest that patients with adult-onset multiple acyl-CoA dehydrogenation deficiency with FLAD1 gene mutations also benefit from long-term riboflavin therapy.


Subject(s)
Frameshift Mutation , Multiple Acyl Coenzyme A Dehydrogenase Deficiency/diet therapy , Multiple Acyl Coenzyme A Dehydrogenase Deficiency/genetics , Mutation, Missense , Riboflavin/therapeutic use , Adult , Female , Heterozygote , Humans , Multiple Acyl Coenzyme A Dehydrogenase Deficiency/pathology , Muscle, Skeletal , Treatment Outcome
2.
Brain Dev ; 32(8): 669-72, 2010 Sep.
Article in English | MEDLINE | ID: mdl-19783111

ABSTRACT

We report an adolescent case of late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD) characterized by intermittent nausea and depressive state as early symptoms. At the age of 12 years and 11 months, the patient experienced intermittent nausea and vomiting, and depressive state. She was on medication for depression for 5 months but it was ineffective. Brain magnetic resonance imaging showed disseminated high-intensity areas in the periventricular white matter and in the splenium of the corpus callosum on T2-weighted images and fluid-attenuated inversion-recovery images. Progressive muscle weakness occurred and blood creatine kinase level was found to be elevated. The muscle biopsy revealed lipid storage myopathy. Urine organic acid analysis and mutation analysis of the ETFDH gene confirmed the diagnosis of MADD. With oral supplements of riboflavin and l-carnitine, in addition to a high-calorie and reduced-fat diet, her clinical symptoms improved dramatically. Early diagnosis is important because riboflavin treatment has been effective in a significant number of patients with MADD.


Subject(s)
Central Nervous System/physiopathology , Multiple Acyl Coenzyme A Dehydrogenase Deficiency/diet therapy , Multiple Acyl Coenzyme A Dehydrogenase Deficiency/diagnosis , Muscle, Skeletal/physiopathology , Riboflavin/therapeutic use , Adolescent , Age of Onset , Biopsy , Central Nervous System/pathology , Electron-Transferring Flavoproteins/deficiency , Electron-Transferring Flavoproteins/genetics , Female , Humans , Iron-Sulfur Proteins/deficiency , Iron-Sulfur Proteins/genetics , Multiple Acyl Coenzyme A Dehydrogenase Deficiency/enzymology , Multiple Acyl Coenzyme A Dehydrogenase Deficiency/genetics , Muscle, Skeletal/pathology , Muscle, Skeletal/surgery , Oxidoreductases Acting on CH-NH Group Donors/deficiency , Oxidoreductases Acting on CH-NH Group Donors/genetics , Treatment Outcome
SELECTION OF CITATIONS
SEARCH DETAIL
...