3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy.
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is a disorder of leucine metabolism that usually presents with recurrent episodes of life-threatening hypoglycemia during early childhood. We report on a 36-year-old woman with seizures, recurrent metabolic disturbances, and severe leukoencephalopathy. The diagnosis was made by analysis of amino acids in urine and serum and was confirmed by demonstration of the deficient enzyme in cultured skin fibroblasts. The patient improved clinically on oral L-carnitine substitution. This treatable condition can remain unrecognized in adults and should be considered a potential cause of leukoencephalopathy.
Bischof
Felix
F
Department of General Neurology, Hertie Institute for Clinical Brain Research, Tübingen, Germany. felix.bischof@uni-tuebingen.de
Nägele
Thomas
T
Wanders
Ronald J A
RJ
Trefz
Friedrich K
FK
Melms
Arthur
A
D000328:Adult; D001927:Brain Diseases / Q000188:drug therapy / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D002331:Carnitine / Q000097:blood / Q000627:therapeutic use; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005977:Glutarates / Q000652:urine; D006801:Humans; D007003:Hypoglycemia / Q000097:blood / Q000188:drug therapy / Q000473:pathology / Q000652:urine; D007962:Leukocytes / Q000201:enzymology* / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D013058:Mass Spectrometry / Q000379:methods; D010088:Oxidoreductases / Q000652:urine; D007652:Oxo-Acid-Lyases / Q000172:deficiency* / Q000235:genetics
D005977:Glutarates; D010088:Oxidoreductases; D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase; D002331:Carnitine