Homocistinuria: informe de 2 pacientes / Homocystinuria: Report of 2 patients
Bol. méd. Hosp. Infant. Méx
; 63(5): 326-331, sep.-oct. 2006.
Article
in Es
| LILACS
| ID: lil-700840
Responsible library:
MX1.1
RESUMEN
Introducción. Homocistinuria es la segunda causa de aminoacidopatías, después de fenilcetonuria. Se hereda en forma autosómica recesiva. El defecto está en el cromosoma 21 q 22.3. Incidencia 1300 000 a 160 000. Es un trastorno del metabolismo de la metionina con aumento de homocisteína, y alteraciones en ojos y sistemas nervioso central, cardiovascular y esquelético. Casos clínicos. Mujeres de 9 y 11 años, con retardo psicomotor, pérdida de la agudeza visual y actividad motora, subluxación de cristalino, nistagmo, mala oclusión dentaria, prognatismo, escápulas aladas, aracno y clindactilia, genuvalgo, pie cavo, ataxia y signo de Romberg positivo. Tamiz metabólico caso 1 metionina 1 194 (normal 7-47 ng/mL), B12 1 167 (normal 220-960 pg/mL), folatos 20-7.2 (normal 3-17 ng/ mL). Caso 2 metionina 180-1 740, vitamina B12 1 749 y 1 744, folatos 3. Tratamiento piridoxina, folatos, vitamina C, B12 y aspirina. Evolución estable. Conclusión. El diagnóstico oportuno de homocistinuria previene complicaciones.
ABSTRACT
Introduction. Homocystinuria is a metabolic disorder of methionine which results elevated homocysteine, visual, central nervous system, cardiovascular system and skeletal disturbances, and the second most frequent amino acid disorder after phenylcetonuria. It is a recessive autosomic hereditary condition. The defect is located in chromosome 21q22-3. Incidence 1300 000 to 160 000. Case reports. Two girls ages 9 and 11 years presented with mental retardation, loss of visual acuity and of motor activity; lens sub luxation, nistagmus, ataxia and positive Romberg's sign. Metabolic screening Case 1 methionine, 1 194 ng/mL (normal, 7-47 ng/mL); B12, 1 167 pg/mL (normal, 120-960 pg/mL); folates, 20-7.2 ng/mL (normal, 3-17 ng/mL). Case 2 methionine, 180-1 740; vitamin B12, 1 749; folates 3 (normal 3-17 ng/mL). Treatement pyridoxine, folates, vitamin C, B12 and aspirin. The clinical course of these patients has been stable. Conclusion. Early diagnosis of homocystinuria prevents complications.
Full text:
1
Collection:
01-internacional
Database:
LILACS
Type of study:
Screening_studies
Language:
Es
Journal:
Bol. méd. Hosp. Infant. Méx
Journal subject:
PEDIATRIA
Year:
2006
Document type:
Article
Affiliation country:
Mexico