Bases moleculares de la deficiencia de la hmg-coa sintasa mtocondrial / Molecular basis of hmg-coa synthase mitocondrial deficiency
Arch. Fac. Med. Zaragoza
; 49(2): 58-62, sept. 2009.
Article
in Spanish
| IBECS
| ID: ibc-114307
Responsible library:
ES1.1
Localization: BNCS
RESUMEN
La deficiencia de la HMG-CoA sintasa mitocondrial (mHS) (MIM600234) es un error innato del metabolismo de tipo autosómico recesivo que está causada por mutaciones en el gen HMGCS2. La mHS es una enzima mitocondrial que cataliza el paso de condensación de acetil-CoA con acetoacetil-CoA para forma 3-hidroxi-2-metilgutaril CoA en la ruta de síntesis de los cuerpos cetónicos. Esta deficiencia suele aparecer en la primara infancia en situaciones de ayuno y alto consumo energético. Las manifestaciones clínicas son inespecíficas e incluyen vómitos, letargia y a veces coma. Hasta la fecha, sólo se han diagnosticado a nivel clínico y genético ocho pacientes en todo el mundo (AU)
ABSTRACT
The HMG-CoA synthase mitocondrial (mHS) deficiency (OMIM 600234) is an autosomal recessive inborn error of metabolism caused by mutations in the HMGCS2 gene. mHS is a mitochondrial enzyme that cathalyzes the condensation step of acetyl-CoA with acetoacetyl-CoA to form 3-hydroxy-3-methylglutaryl CoA in the synthesis pathway of the ketone bodies. This deficiency frequently appears during childhood under fasting and/or high energy consumption situations. Clinical manifestations are rather inespecific and include vomiting, lethargy and, in some cases, coma. To date, only eight patients have been clinically and genetically characterized around the word (AU)
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Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Mitochondrial Proteins
/
Hydroxymethylglutaryl-CoA Synthase
/
Metabolism, Inborn Errors
Type of study:
Etiology study
/
Risk factors
Limits:
Humans
Language:
Spanish
Journal:
Arch. Fac. Med. Zaragoza
Year:
2009
Document type:
Article
Institution/Affiliation country:
Universidad de Zaragoza/España