Galactosemia clásica (a propósito de un caso) Unidad Estudios Especiales Adjunto Cenismi, Hospital Infantil Dr. Robert Reid Cabral (HIRRC), República Dominicana
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galactosemia tipo I
deficiencia de galactosa 1 fosfato uridil transferasa
cataratas
deficiencia de galactosa 1 fosfato uridil transferasa
cataratas
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Volume Title
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Intituto Tecnológico de Santo Domingo (INTEC)
La galactosemia es una ocurrencia rara debido a la falla del metabolismo del azúcar galactosa en la ruta de Leloir, usada por el cuerpo para transformar D-galactosa a D-glucosa 1 fosfato, para lo cual requiere la participación de las enzimas GALK1, GALT y GALE. El gen que codifica la enzima galactosa 1 fosfato uridil transferasa (GaLT) se localiza en el cromosoma 9p13. Es la primera enzima identificada en este trastorno y también es la causa más común de galactosemia tipo I y/o galactosemia clásica (OMIM No. 230400). En este trabajo presentamos el caso de un niño de un año y tres meses de edad que, después de tres meses de vida, fue hospitalizado en varias ocasiones a causa de infecciones del tracto urinario y neumonía.Al año de edad presentó anemia severa, desnutrición marasmática, retraso motor, opacidad del cristalino bilateral y hepatomegalia de 7 cm por debajo del reborde costal derecho.
Galactosemia is a rare occurrence due to the failure of the sugar metabolism galactose in the Leloir pathway, a route used by the body to transform D-galactose to D-glucose 1 phosphate, requiring the participation of the enzymes GALK1, GALT and GALE. The gene encoding the galactose 1 phosphate uridyl transferase (GaLT) enzyme is located on chromosome 9p13. It is the first enzyme identified in this disorder and it is also the most common cause of galactosemia type I and/or classic galactosemia (OMIM No. 230400).We present a case of a one-year-old male child who, after three months of life, was hospitalized repeatedly for urinary tract infections and pneumonia.At one year of age, he presented severe anemia, marasmic malnutrition, motor retardation, opacity of the bilateral lens and hepatomegaly 7 cm below the right costal ridge.
Galactosemia is a rare occurrence due to the failure of the sugar metabolism galactose in the Leloir pathway, a route used by the body to transform D-galactose to D-glucose 1 phosphate, requiring the participation of the enzymes GALK1, GALT and GALE. The gene encoding the galactose 1 phosphate uridyl transferase (GaLT) enzyme is located on chromosome 9p13. It is the first enzyme identified in this disorder and it is also the most common cause of galactosemia type I and/or classic galactosemia (OMIM No. 230400).We present a case of a one-year-old male child who, after three months of life, was hospitalized repeatedly for urinary tract infections and pneumonia.At one year of age, he presented severe anemia, marasmic malnutrition, motor retardation, opacity of the bilateral lens and hepatomegaly 7 cm below the right costal ridge.
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info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
info:eu-repo/semantics/publishedVersion
Source
Science and Health; Vol 2 No 1 (2018): Science and Health, january-april; 9-13
Ciencia y Salud; Vol. 2 Núm. 1 (2018): Ciencia y Salud, enero-abril; 9-13
2613-8824
2613-8816
10.22206/cysa.2018.v2i1
Ciencia y Salud; Vol. 2 Núm. 1 (2018): Ciencia y Salud, enero-abril; 9-13
2613-8824
2613-8816
10.22206/cysa.2018.v2i1