3-Ketothiolase 결핍을 동반한 Partial Trisomy 9P 증후군 1례

• 영문명: A Case of P artial Trisomy 9p Syndrome with 3-Ketothiolase Def iciency
• 발행기관: 대한소아신경학회
• 저자명: 나형준(Hyoung Joon Na) 임현철(Hyun Chul Lim) 임백근(Baek Keun Lim) 이해용(Hae Yong Lee) 차병호(Byung Ho Cha)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제14권 제2호, 375~379쪽, 전체 5쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 2006.11.30

국문 초록

저자들은 반복적 구토와 식욕부진을 주소로 내원한 3세 여아에서 염색체 핵형검사 및 소변 유기산 검사를 통해 3-ketothiolase 결핍증을 동반한 partial trisomy 9p를 보인 환아 1례를 경험하였기에 보고하는 바이다.

영문 초록

Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 150 cases have been reported. The characteristic features of the partial trisomy 9p syndrome is clearly recognizable faces, which include microcephaly, facial deformities, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. The 3-ketothiolase deficiency was first described in 1971 and about 30 cases have been reported. The 3-ketothiolase deficeiency is an inborn error of isoleucine and ketone body catabolism that shows autosomal recessive traits, caused by a deficiency of mitochondrial acetoacetyl-coenzyme A thiolase(T2). We report a case of partial trisomy 9p syndrome with 3-ketothiolase deficeiency in a 4-years-old female. The karyotype of the patient was confirmed as 46,XY, add(9)(p23) mat. In the urine organic acid test, 3-ketothiolase deficiency was reported.

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키워드

Partial trisomy 9p 3-Ketothiolase deficiency