Document Detail


Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
MedLine Citation:
PMID:  17437913     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A case of 2-methyl-3-hydroxybutyryl-coenzyme A dehydrogenase deficiency, an X-linked defect of isoleucine degradation, is reported. A 10-month-old male infant with developmental regression, visual impairment, movement disorder, and seizures, he suffered acute deterioration with multiorganic failure after a respiratory infection. Laboratory studies revealed hyperlactacidemia and increased excretion of 2-methyl-3-hydroxybutyric acid (2M3HBA) and tiglylglycine (TG). The diagnosis was established by molecular genetic analysis of the involved X-chromosome gene HADH2. The patient was hemizygous for the mutation R130C (c. 388C>T). Magnetic resonance imaging disclosed frontotemporal atrophy and bilateral signal abnormalities in the putamina. The presence of basal ganglia abnormalities and lactic acidemia, also shared by mitochondrial disorders, suggests a common pathophysiologic mechanism of damage.
Authors:
María R Cazorla; Alfonso Verdú; Celia Pérez-Cerdá; Antonia Ribes
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  36     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2007 Apr 
Date Detail:
Created Date:  2007-04-17     Completed Date:  2007-06-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  264-7     Citation Subset:  IM    
Affiliation:
Neuropediatric Unit, Hospital Virgen de la Salud, Toledo, Spain. rcazorlac@hotmail.com <rcazorlac@hotmail.com>
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MeSH Terms
Descriptor/Qualifier:
Alcohol Oxidoreductases / deficiency*,  genetics
Atrophy
Brain / metabolism,  pathology*
Brain Diseases, Metabolic, Inborn / genetics,  metabolism*,  pathology*
Chromosomes, Human, X
Frontal Lobe / metabolism,  pathology
Humans
Infant
Isoleucine / metabolism
Magnetic Resonance Imaging*
Male
Putamen / metabolism,  pathology
Temporal Lobe / metabolism,  pathology
Chemical
Reg. No./Substance:
73-32-5/Isoleucine; EC 1.1.-/Alcohol Oxidoreductases; EC 1.1.1.178/2-methyl-3-hydroxybutyryl-coenzyme A dehydrogenase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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