신생아들은 유전 대사 장애 병을 가지고 태어낫는지 알아 보기위해 선별 임상 검사를 미국에서는 받는다, Newborn screen tests for hereditary metabolic disorders in USA

페닐키톤요증 (PKU ),
갑상선 기능저하증 (Hypothyroidism)
갈락토오스혈증 (Galactosemia)
호모씨스틴뇨증 (Homocystinuria)
겸상적혈구 혈증 (Sickle cell anemia)
고메티오혈증 (Hypermethioninemia)
타이로신혈증 (Tyrosinemia)
단풍시럽뇨병 (Maple syrup uine disease)
카르니틴/아세틸 (Translocase deficiency, Carnitine transporter deficiency)
카르니틴 팔미토일트랜스퍼라이제 결핍 I (Carnitine palmitoyl transferase deficiency I)
카르니틴 팔미토일트랜스퍼라이제 결핍 II (Carnitine palmitoyl transferase deficiency II)
글루타르산혈증 II형 (Glutaric acidemia type II)
Multiple acyl-CoA dehydronenase deficiency)
메틸마르니카산혈증 (Methylmalonicacidemia)
프로피은닉산혈증 (Propionicacidemia)
이소발레르산혈증 (IVA)
글루타르산혈증 I형 (Glutaric acidemia type I)
3 MMC 결핍증 (3 – Methylcrotonyl-CoA carboxylase deficiency)
HMG 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency
BKT Beta-ketothiolase deficiency
Multiple CoA carboxylase deficiency 등
유전 질환과 유전 대사 장애를 조기에 진단 치료 예방하기 위해 피검사와 소변 검사를 받는다.

Newborn screen tests for hereditary metabolic disorders in USA

• Phenylchitonuria (PKU);

• Hypothyroidism

• Galactosemia

• Homocystinuria

• Sickle cell anemia

• Hypermethioninemia

• Tyrosinemia

• Maple syrup uine disease

• Carnitine/Acetyl (Translocase deficiency, Carnitine transporter deficiency)

• Carnitine palmitoyl transferase deficiency I

• Carnitine palmitoyl transferase deficiency II

• Glutaric acidemia type II

• Multiple acyl-CoA dehydronenase deficiency)

• Methylmalonicacidemia

• Propionicacidemia • Isovaleric acidemia (IVA)

• Glutaric acidemia type I

• 3 MMC deficiency (3-Methylcrotonyl-CoA carboxylase deficiency)

• HMG 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency

• BKT Beta-ketothiolase deficiency

• Multiple CoA carboxylase deficiency, etc.

• Blood and urine tests to prevent genetic disorders and genetic metabolic disorders early diagnosis, treatment and prevention.

출처 및 참조 문헌

소아가정간호백과–부모도 반의사가 되어야 한다, 이상원
Nelson Textbook of Pediatrics 14th ed. Beherman,
The Johns Hopkins Hospital, The Harriet Lane Handbook, 18th edition
Red book 29th edition 2012
Nelson Text Book of Pediatrics 19th Edition
Infectious disease of children, Saul Krugman, Samuel L Katz, Ann A. Gerhon, Catherine Wilfert
The Harriet Lane Handbook 19th Edition
제14권 소아청소년 내분비․유전․염색체․대사․휘귀병 참조문헌 및 출처
Sources and references on Growth, Development, Cares and Diseases of Newborn Infants
Emergency Medical Service for Children, By Ross Lab. May 1989. p.10
Emergency care, Harvey grant and Robert Murray
Emergency Care Transportation of Sick and Injured American Academy of Orthopaedic Surgeons
Emergency Pediatrics A Guide to Ambulatory Care, Roger M. Barkin, Peter Rosen
Endocrine and Genetic Diseases of Childhood and Adolescence, Lytt I Gardner, M.D., W.B. Saunders
Recognizable Patterns of Human Malformation, Smith
Diagnosis in color Pediatrics, Taylor Raffles
Atlas of PEDIATRIC PHYSICAL DIAGNOSIS, Frank A. Oski
Growth and Development of Children, George H. Lowrey 8th ed
소아과학 대한교과서
의학 용어사전 대한 의사 협회
그 외

“부모도 반의사가 되어야 한다”-내용은 여러분들의 의사로부터 얻은 정보와 진료를 대신할 수 없습니다.

“The information contained in this publication should not be used as a substitute for the medical care and advice of your doctor. There may be variations in treatment that your doctor may recommend based on individual facts and circumstances.

“Parental education is the best medicine.