Carbajal-Rodríguez L, Barrios-Fuentes R, Vela-Amieva M, Rodríguez-Herrera R, Zarco-Román J

Language: Spanish
References: 18
Page: 326-331
PDF size: 75.00 Kb.

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: 1:300 000 to 1:60 000.
Case reports. Two girls ages 9 and 11 years presented with mental retardation, loss of visual acuity and of motor activity; lens subluxation, 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.

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