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KMID : 0368019840070040333
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Journal of Soonchunhyang University
1984 Volume.7 No. 4 p.333 ~ p.341
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The Incidence of inherited Metabolic Disorders and Hypothyroidism in the Korean Mentally Retarded Patients
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Abstract
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A total of 1000 mentally retarded patients at 11 special schools of mental retardation in Korea, were screened for phenylketonuria, maple syrup urine disease, homocystinuria, histidinemia and urea cycle disorders by Guthrie´s bacterial inhibition assay and for galactosemia with the E cob phage procedure reported by paigen at Tokyo Association of Health Service. 832 patients among them were screened also for hypothyroidism by the radioimmunoassay of TSH in dry blood specimen on a filter paper.
The results obtained were as follows;
Of the 1,000 patients studied, 679 cases were male, 321 cases were female. Sex ratio (M :F) was 2.1 : 1.
Ages ranged from 5 to 50 years, with the great majority being of 9?14 years. (table 2) 14% of patients had combined with epilepsy.
Only 2 patients (0.2%) had phenylketonuria among 1000 mentally retarded patients. Histidinemia, maple syrup urine disease, homocystinuria, urea cycle discrders and galactosemia were not detected.
4. Of the 832 patients studied, 2 patients (0.24%) had congenital hypothyroidism and 1 pa iient (0.12%) had acquired hypothyroidism.
5. These results are compared with those of surveys abroad and the incidence of phenylketo nuria in Korean newborns was estimated 1/20,000?1/130,000, and the incidence of congenital hypothyroidism in Korean newborns was estimated 1/4, 000?1/5, 000.
6. I hope the program of neonatal mass screening should be conducted early for preventing mental retardation in children with inborn errors of metabolism and hypothyroidism in our country.
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KEYWORD
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