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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....
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| Published in: | Annals of neurology 2004-11, Vol.56 (5), p.727-730 |
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| cited_by | cdi_FETCH-LOGICAL-c4200-afc190244af304fb207d171131773baeb698821636e9a56d4258121261afb1103 |
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| cites | cdi_FETCH-LOGICAL-c4200-afc190244af304fb207d171131773baeb698821636e9a56d4258121261afb1103 |
| container_end_page | 730 |
| container_issue | 5 |
| container_start_page | 727 |
| container_title | Annals of neurology |
| container_volume | 56 |
| creator | Bischof, Felix Nägele, Thomas Wanders, Ronald J. A. Trefz, Friedrich K. Melms, Arthur |
| description | 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. Ann Neurol 2004;56:727–730 |
| doi_str_mv | 10.1002/ana.20280 |
| format | article |
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Ann Neurol 2004;56:727–730</description><identifier>ISSN: 0364-5134</identifier><identifier>EISSN: 1531-8249</identifier><identifier>DOI: 10.1002/ana.20280</identifier><identifier>PMID: 15505778</identifier><identifier>CODEN: ANNED3</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult ; Biological and medical sciences ; Brain Diseases - drug therapy ; Brain Diseases - enzymology ; Brain Diseases - pathology ; Brain Diseases - physiopathology ; Carnitine - blood ; Carnitine - therapeutic use ; Diseases of striated muscles. Neuromuscular diseases ; Female ; Fibroblasts - enzymology ; Glutarates - urine ; Human viral diseases ; Humans ; Hypoglycemia - blood ; Hypoglycemia - drug therapy ; Hypoglycemia - pathology ; Hypoglycemia - urine ; Infectious diseases ; Leukocytes - enzymology ; Leukocytes - pathology ; Magnetic Resonance Imaging - methods ; Mass Spectrometry - methods ; Medical sciences ; Neurology ; Oxidoreductases - urine ; Oxo-Acid-Lyases - deficiency ; Oxo-Acid-Lyases - genetics ; Viral diseases ; Viral diseases of the lymphoid tissue and the blood. 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A.</creatorcontrib><creatorcontrib>Trefz, Friedrich K.</creatorcontrib><creatorcontrib>Melms, Arthur</creatorcontrib><title>3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>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. Ann Neurol 2004;56:727–730</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Brain Diseases - drug therapy</subject><subject>Brain Diseases - enzymology</subject><subject>Brain Diseases - pathology</subject><subject>Brain Diseases - physiopathology</subject><subject>Carnitine - blood</subject><subject>Carnitine - therapeutic use</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>Female</subject><subject>Fibroblasts - enzymology</subject><subject>Glutarates - urine</subject><subject>Human viral diseases</subject><subject>Humans</subject><subject>Hypoglycemia - blood</subject><subject>Hypoglycemia - drug therapy</subject><subject>Hypoglycemia - pathology</subject><subject>Hypoglycemia - urine</subject><subject>Infectious diseases</subject><subject>Leukocytes - enzymology</subject><subject>Leukocytes - pathology</subject><subject>Magnetic Resonance Imaging - methods</subject><subject>Mass Spectrometry - methods</subject><subject>Medical sciences</subject><subject>Neurology</subject><subject>Oxidoreductases - urine</subject><subject>Oxo-Acid-Lyases - deficiency</subject><subject>Oxo-Acid-Lyases - genetics</subject><subject>Viral diseases</subject><subject>Viral diseases of the lymphoid tissue and the blood. 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A.</au><au>Trefz, Friedrich K.</au><au>Melms, Arthur</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy</atitle><jtitle>Annals of neurology</jtitle><addtitle>Ann Neurol</addtitle><date>2004-11</date><risdate>2004</risdate><volume>56</volume><issue>5</issue><spage>727</spage><epage>730</epage><pages>727-730</pages><issn>0364-5134</issn><eissn>1531-8249</eissn><coden>ANNED3</coden><abstract>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. 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| ispartof | Annals of neurology, 2004-11, Vol.56 (5), p.727-730 |
| issn | 0364-5134 1531-8249 |
| language | eng |
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| source | Wiley-Blackwell Read & Publish Collection |
| subjects | Adult Biological and medical sciences Brain Diseases - drug therapy Brain Diseases - enzymology Brain Diseases - pathology Brain Diseases - physiopathology Carnitine - blood Carnitine - therapeutic use Diseases of striated muscles. Neuromuscular diseases Female Fibroblasts - enzymology Glutarates - urine Human viral diseases Humans Hypoglycemia - blood Hypoglycemia - drug therapy Hypoglycemia - pathology Hypoglycemia - urine Infectious diseases Leukocytes - enzymology Leukocytes - pathology Magnetic Resonance Imaging - methods Mass Spectrometry - methods Medical sciences Neurology Oxidoreductases - urine Oxo-Acid-Lyases - deficiency Oxo-Acid-Lyases - genetics Viral diseases Viral diseases of the lymphoid tissue and the blood. Aids |
| title | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy |
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