Homocystinuria

Disease Information
Homocystinuria is an "autosomal recessive" amino acid metabolic disorders. If both parents are recessive carriers, fourth chance of the baby sick, and the probability of illness in patients with no gender distinction. Mainly due to the cystathionine-B-synthase functions lacking, resulting synthesis homocysteine ​​cysteine ​​(cystine; Cys) occurs during the barrier, resulting in methionine (methionine; Met), high homocysteine ​​(homocystine; Hcy), homocysteine ​​disulfide compounds and compound toxic metabolites accumulate in the body, so a large number of high urinary excretion of cystine. Homocystinuria in Europe occur in approximately 1/200000, Taiwan, the incidence may be lower, about fifty or less extreme one. Excreted in the urine of patients by the large number of high homocysteine​​, if not treated early, there are mental retardation, skeletal deformities, dislocation of the eye lens, cardiovascular disease and thrombosis and other complications.
item disease symptoms
1 urine large number of high homocysteine​​.
(2) high blood homocysteine ​​values ​​and methionine values ​​were high.
3. Failure untreated, will lead to systemic skeletal deformities, mental retardation, eye lens dislocation, thrombosis and other complications.
item diseases
1. The use of large doses of vitamin B6 (pyridoxine) therapy.
(2) If the preceding paragraph, there is no good treatment response, should use or with diet therapy:
     (A) using the special milk formula legumes (such as the 3200-K).
     (B) the use of low methionine diet, adding cysteine ​​(cystine).
     (C) regular monitoring of blood and urine methionine content in high homocysteine ​​values.
     (D) time to accept physical and mental developmental assessment.
Remind you: the sensitivity of screening is not 100%, check the results because of certain diseases late onset, atypical, or special dietary protein intake while the possibility of false negative, if health problems, consult related to the pediatrician.