[Multiple acyl-CoA dehydrogenase deficiency (MADD): a curable cause of genetic muscular lipidosis].
BACKGROUND
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare genetic disease involving fatty acid oxidation. It is due to the deficiency of one of the two electron transporters: electron transfer flavoprotein (ETF) or electron transfer flavoprotein ubiquinone oxydoreductase (ETF-QO). Symptoms begin more often in childhood or in young adulthood with a multisystemic disease with encephalopathy or muscular weakness.


METHODS
We report here two adult cases with ETF-QO deficiency, confirmed by mutation analysis (ETFDH gene), revealed by a muscular weakness associated with muscle lipidosis. One of our patients presented an acute encephalopathy with vomiting ten years before the onset of muscular symptoms. The second patient exhibited a slowly progressive pelvic girdle muscle weakness. Diagnosis was established by characteristic abnormalities of acylcarnitine profile by tandem mass spectrometry. For both patients, a dramatic clinical improvement was observed under treatment with riboflavine and L-carnitine.


CONCLUSIONS
Since it is a treatable disorder, this diagnosis must be considered by performing an acylcarnitine profile in all patients presenting with an unexplained muscular weakness.
Maillart
E
E
Centre de référence de pathologie neuromusculaire Paris-Est, groupe hospitalier Pitié-Salpêtrière, Assistance publique-Hôpitaux de Paris, Paris, France.
Acquaviva-Bourdain
C
C
Rigal
O
O
Brivet
M
M
Jardel
C
C
Lombès
A
A
Eymard
B
B
Vianey-Saban
C
C
Laforêt
P
P
D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D000328:Adult; D001706:Biopsy; D001928:Brain Diseases, Metabolic / Q000235:genetics; D002331:Carnitine / Q000031:analogs & derivatives / Q000032:analysis / Q000378:metabolism; D004396:Coloring Agents; D004252:DNA Mutational Analysis; D004579:Electron Transport / Q000235:genetics; D044927:Electron-Transferring Flavoproteins / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D008064:Lipidoses / Q000188:drug therapy* / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000209:etiology / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D012256:Riboflavin / Q000378:metabolism; D053719:Tandem Mass Spectrometry; D055815:Young Adult
D004396:Coloring Agents; D044927:Electron-Transferring Flavoproteins; C116917:acylcarnitine; D044944:Acyl-CoA Dehydrogenases; D002331:Carnitine; D012256:Riboflavin