Homocistinuria debida a deficiencia de cistationina beta-sintetasa. A propósito de un caso / A case of homocystinuria due to cystathionine beta-synthase deficiency
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)
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