TY  - CHAP
M1  - Book, Section
TI  - Inherited Disorders of Amino Acid Metabolism in Adults
A1  - Longo, Nicola
A2  - Jameson, J. Larry
A2  - Fauci, Anthony S.
A2  - Kasper, Dennis L.
A2  - Hauser, Stephen L.
A2  - Longo, Dan L.
A2  - Loscalzo, Joseph
PY  - 2018
T2  - Harrison's Principles of Internal Medicine, 20e
AB  - Amino  acids  are  the  building  blocks  of  proteins  and  serve  as  neurotransmitters  (glycine,  glutamate,  γ-aminobutyric  acid)  or  as  precursors  of  hormones,  coenzymes,  pigments,  purines,  or  pyrimidines.  Eight  amino  acids,  referred  to  as  essential  (histidine,  isoleucine,  leucine,  lysine,  methionine,  phenylalanine,  valine,  threonine,  and  tryptophan),  cannot  be  synthesized  by  humans  and  must  be  obtained  from  dietary  sources.  The  others  are  formed  endogenously.  Each  amino  acid  has  a  unique  degradative  pathway  by  which  its  nitrogen  and  carbon  components  are  used  for  the  synthesis  of  other  amino  acids,  carbohydrates,  and  lipids.  Disorders  of  amino  acid  metabolism  and  transport  (Chap.  414)  are  individually  rare—the  incidences  range  from  1  in  10,000  for  cystinuria  or  phenylketonuria  to  1  in  200,000  for  homocystinuria  or  alkaptonuria—but  collectively,  they  affect  perhaps  1  in  1000  newborns.  Almost  all  are  transmitted  as  autosomal  recessive  traits.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - accesspharmacy.mhmedical.com/content.aspx?aid=1156508674
ER  -