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  1. ºû«ù­ì¦³­fଧ¿¯g ( PKU)¡B°ª¯ÖÓi»Ä§¿¯g ( HCU )¡B¥b¨Å¿}¦å¯g( GAL )¡B¥ý¤Ñ©Ê¥Òª¬¸¢§C¯à¯g ( CHT) ¤Î¸²µå¿}¤»ÁC»ÄÆQ¥h²B¯Ê¥F¯g ( G6PD¯Ê¥F¯g) µ¥¤­¶µ±`³W¿zÀ˶µ¥Ø¡C
  1. «ØÄ³¯Ç¤J¬°·s¼W¤§±`³W¿zÀ˶µ¥Ø¡A¥]§t¥ý¤Ñ©ÊµÇ¤W¸¢¼W¥Í¯g ( CAH )¡B·¬¼ß§¿¯f ( MSUD )¡B¤¤ÃìñQ»²£D¥h²B¯Ê¥F¯g( MCAD )¡B¥³¤G»Ä¦å¯g²Ä¤@«¬ ( GA I )¡B²§¥³»Ä¦å¯g ( IVA )¡B¥Ò°ò¤þ¤G»Ä¦å¯g ( MMA ) µ¥¤»¶µ¯e¯f¡C
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·s¥Í¨à¿zÀ˯e¯f«ØÄ³ªí

¬ÛÃö¯e¯f¿zÀ˧@·~­ì«h

I. «ØÄ³ºû«ù±`³W¿zÀˤ§¶µ¥Ø

Congenital Hypothyroidism (CHT)

Galactosemia (GAL)

G6PD Deficiency (G6PD)

Homocystinuria (HCU)

Phenylketonuria (PKU)

 
II. «ØÄ³¦Ò¼{¯Ç¤J±`³W¿zÀˤ§·s¼W¶µ¥Ø

A1. Congenital Adrenal Hyperplasia (CAH)      <¿zÀ˧@·~­ì«h>

A2. Maple Syrup Urine Disease (MSUD)      <¿zÀ˧@·~­ì«h>

B3. Medium Chain Acyl- CoA Dehydrogenase Deficiency (MCAD)      <¿zÀ˧@·~­ì«h>

C3. Glutaric Acidemia Type I (GA I)      <¿zÀ˧@·~­ì«h>

C4. Isovaleric Acidemia (IVA)      <¿zÀ˧@·~­ì«h>

C5. Methylmalonic Acidemia (MMA)      <¿zÀ˧@·~­ì«h>

 
III. «ØÄ³¶i¦æ¥ýÁͩʥþ­±¿zÀˤ§¶µ¥Ø

B1. Biotinidase Deficiency (BD)      <¿zÀ˧@·~­ì«h>

C1. Argininosuccinase Deficiency (ASA)      <¿zÀ˧@·~­ì«h>

C2. Citrullinemia (CIT)      <¿zÀ˧@·~­ì«h>

C6. Propionic Acidemia (PA)      <¿zÀ˧@·~­ì«h>

C12. 3-Hydroxy-3-Methylglutaric Aciduria (HMG)      <¿zÀ˧@·~­ì«h>

C15. 2-Methylbutyryl-CoA Dehydrogenase Deficiency (2MBCD)      <¿zÀ˧@·~­ì«h>

C16. Beta- Ketothiolase Deficiency (BKT) (Mitochondrial Acetoacetyl-CoAThiolase Deficiency)      <¿zÀ˧@·~­ì«h>

C21. 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)      <¿zÀ˧@·~­ì«h>

C22. Multiple Carboxylase Deficiency (MCD)      <¿zÀ˧@·~­ì«h>

C35. 3-Methylglutaconyl-CoA Hydratase Deficiency (MGAI)      <¿zÀ˧@·~­ì«h>

C36. 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (MHBD)     <¿zÀ˧@·~­ì«h>

 
IV. «ØÄ³¦Ò¼{¶i¦æ¥ýÁͩʬãµoµû¦ô¤§¶µ¥Ø

C7. Tyrosinemia Type I

C8. Tyrosinemia Type II

C9. Argininemia

C10. Glutathione Synthetase Deficiency

C11. Hyperammonemia , Hyperornithinemia , Homocitrullinuria

C13. Isobutyryl-CoA Dehydrogenase Deficiency

C14. Malonic Aciduria

C18. Glutaric Acidemia Type II

C23. Carnitine / Acylcarnitine Translocase Deficiency

C24. Carnitine Palmitoyltransferase Deficiency Type I

C25. Carnitine Palmitoyltransferase Deficiency Type II

C26. 2,4 Dienoyl-CoA Reductase Deficiency

C27. Long Chain Acyl-CoA Dehydrogenase Deficiency

C28. Long Chain Hydroxy Acyl-CoA Dehydrogenase Deficiency

C29. Short Chain Acyl-CoA Dehydrogenase Deficiency

C30. Short Chain Hydroxy Acyl-CoA Dehydrogenase Deficiency

C31. Very Long Chain Acyl-CoA Dehydrogenase Deficiency

C32. Carbamoylphosphate Synthetase Deficiency

C33. N-Acetylglutamate Synthetase Deficiency

C34. Ornithine Transcarbamylase Deficiency

C37. Carnitine Transporter Defect

 
V. «ØÄ³¥Ø«e¼È¤£¦Ò¼{¶i¦æ¿zÀˤ§¶µ¥Ø

B2. Cystic Fibrosis

B4. Sickle Cell Anemia

C17. Nonketotic Hyperglycinemia

C19. Hyperprolinemia Type I

C20. Hyperprolinemia Type II

 
VI. ©|«Ýµo®i¤Î±´°Q¤§¶µ¥Ø

D1. Duchenne Muscular Dystrophy

D2. Gaucher Disease

D3. Wilson Disease

D4. Fabry Disease

D5. Biliary Atresia

D6. Congenital Toxoplasmosis  (TOXO)

D7. Severe Combined Immunodeficiency (SCID)

 

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¡@Copyright: ¹w¨¾Âå¾Ç°òª÷·|¡@¡@¡@ Updated on : 25 Jul, 2012