Clinical Observation on Three Cases of Phnylketonurla |
Goeng Pil Chun, Young Soon Suh, Jai Kyung Kim, Se Mo Suh, Duk Jin Yun |
Department of Pediatrics Yonsei University, College of Medicine |
3 例에서 본 Phenylketonuria에 對한 臨皮的 觀察 |
全宏弼, 徐永順, 金在卿, 徐世模, 尹德鎭 |
延世犬學校 醫科大學 小兒科學敎室 |
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Abstract |
3case of Phenylketonuria with mental retardation, irritability, seizure, eczema, fair skin, mousey odor and positive ferric chloride test in the urine were reported in Korean children for the first time. Two of them were brothers aged 3 years 5 months and 1 year 11 months. Paper chromatography in urine showed increased Phenylalanine level in both of them. They also had abnormal electro encephalogram. The third case was a 1 year 9 months old female.
The biochemical background, clinicdl symptoms and treatment of Phenylketonuria were briefly discussed.
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