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Homocistinuria debida a deficiencia de cistationina beta-sintetasa. A propósito de un caso / A case of homocystinuria due to cystathionine beta-synthase deficiency
Juan García, Patricia; Torío Ruiz, Alberto; Juncos Tobarra, María Ángeles; Navarro Casado, Laura.
Affiliation
  • Juan García, Patricia; Complejo Hospitalario Universitario de Albacete. Servicio de Análisis Clínicos. Albacete. España
  • Torío Ruiz, Alberto; Complejo Hospitalario Universitario de Albacete. Servicio de Análisis Clínicos. Albacete. España
  • Juncos Tobarra, María Ángeles; Complejo Hospitalario Universitario de Albacete. Servicio de Análisis Clínicos. Albacete. España
  • Navarro Casado, Laura; Complejo Hospitalario Universitario de Albacete. Servicio de Análisis Clínicos. Albacete. España
Rev. lab. clín ; 10(4): 212-216, oct.-dic. 2017. tab, ilus
Article in Spanish | IBECS | ID: ibc-166853
Responsible library: ES1.1
Localization: BNCS
RESUMEN
La homocistinuria es un error innato del metabolismo de la metionina con una alta tasa de morbimortalidad. Mutaciones en la cistationina beta-sintetasa son la causa más frecuente de homocistinuria, conocida esta como homocistinuria clásica. Hay descritas más de 150 mutaciones diferentes, de las cuales la más prevalente en España es la T191M. La detección mediante cribado neonatal puede prevenir las complicaciones más graves de la enfermedad y posibilitar un desarrollo cognitivo normal. Presentamos un caso de homocistinuria clásica debida a la mutación T353M, con fenotipo no respondedor a piridoxina (AU)
ABSTRACT
Homocystinuria is an inherited disorder of methionine metabolism, and has a high morbidity-mortality rate. Mutations in the cystathionine beta-synthase gene are the most common cause of homocystinuria, known as classic homocystinuria. More than 150 mutations have been described, with T191M being the most prevalent in Spain. Neonatal identification by newborn screening may prevent severe complications, and allow normal intellectual development. A case is presented of pyridoxine non-responsive homocystinuria due to T353 mutation (AU)
Subject(s)

Full text: Available Collection: National databases / Spain Health context: SDG3 - Health and Well-Being / SDG3 - Target 3.4 Reduce premature mortality due to noncommunicable diseases / SDG3 - Target 3.2 Reduce avoidable death in newborns and children under 5 Health problem: Target 3.2: Reduce avoidable death in newborns and children under 5 / Endocrine System Diseases / Malnutrition and Nutritional Deficiencies / Neonatal Healthcare / Nutrition Database: IBECS Main subject: Hyperhomocysteinemia / Cystathionine beta-Synthase / Homocystinuria Type of study: Prognostic study Limits: Adolescent / Female / Humans Language: Spanish Journal: Rev. lab. clín Year: 2017 Document type: Article Institution/Affiliation country: Complejo Hospitalario Universitario de Albacete/España

Full text: Available Collection: National databases / Spain Health context: SDG3 - Health and Well-Being / SDG3 - Target 3.4 Reduce premature mortality due to noncommunicable diseases / SDG3 - Target 3.2 Reduce avoidable death in newborns and children under 5 Health problem: Target 3.2: Reduce avoidable death in newborns and children under 5 / Endocrine System Diseases / Malnutrition and Nutritional Deficiencies / Neonatal Healthcare / Nutrition Database: IBECS Main subject: Hyperhomocysteinemia / Cystathionine beta-Synthase / Homocystinuria Type of study: Prognostic study Limits: Adolescent / Female / Humans Language: Spanish Journal: Rev. lab. clín Year: 2017 Document type: Article Institution/Affiliation country: Complejo Hospitalario Universitario de Albacete/España
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