* Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager.
- Late-onset glutaric aciduria type II has been described recently as a rare but treatable cause of proximal myopathy in teenagers and adults. It is an autosomal recessive disease affecting fatty acid, amino acid, and choline metabolism. This is usually a result of 2 defective flavoproteins: either electron transfer flavoprotein (ETF) or electron transfer flavoprotein-ubiquinone oxidoreductase (ETF:QO). We present a 14-year-old boy with a background of autistic spectrum disorder who presented with severe muscle weakness and significant rhabdomyolysis. Before the onset of muscle weakness, he was very active but was completely bedridden at presentation. Diagnosis was established quickly by urine organic acid and plasma acylcarnitine analysis. He has shown significant improvement after starting oral riboflavin supplementation and is now fully mobile. This case highlights that late-onset glutaric aciduria type II is an important differential diagnosis to consider in teenagers presenting with proximal myopathy and rhabdomyolysis and it may not be associated with hypoglycemia.
=>1.酸っぱい, 2.辛辣な, 3.酸, 4.《俗語》麻薬, LSD
Overview of noun acid
The noun acid has 2 senses (first 1 from tagged texts)
1. (4) acid -- (any of various water-soluble compounds having a sour taste and capable of turning
litmus red and reacting with a base to form a salt)
2. acid, back breaker, battery-acid, dose, dot, Elvis, loony toons, Lucy in the sky with diamonds,
pane, superman, window pane, Zen -- (street name for lysergic acid diethylamide)
Overview of adj acid
The adj acid has 3 senses (first 1 from tagged texts)
1. (1) acerb, acerbic, acid, acrid, bitter, blistering, caustic, sulfurous, sulphurous, virulent,
vitriolic -- (harsh or corrosive in tone; "an acerbic tone piercing otherwise flowery prose"; "a
barrage of acid comments"; "her acrid remarks make her many enemies"; "bitter words"; "blistering
criticism"; "caustic jokes about political assassination, talk-show hosts and medical ethics"; "a
sulfurous denunciation"; "a vitriolic critique")
2. acidic, acid, acidulent, acidulous -- (being sour to the taste)
3. acid -- (having the characteristics of an acid; "an acid reaction")
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