TY  - CHAP
M1  - Book, Section
TI  - Alkaptonuria
A1  - Kayser, Michael A.
A1  - Introne, Wendy
A1  - Gahl, William A.
A2  - Valle, David L.
A2  - Antonarakis, Stylianos
A2  - Ballabio, Andrea
A2  - Beaudet, Arthur L.
A2  - Mitchell, Grant A.
PY  - 2019
T2  - The Online Metabolic and Molecular Bases of Inherited Disease
AB  - Alkaptonuria  (MIM  203500;  gene  symbol  AKU)  is  a  rare,  hereditary,  metabolic  disease  in  which  homogentisic  acid,  an  intermediary  product  in  the  metabolism  of  phenylalanine  and  tyrosine,  cannot  be  further  metabolized.  The  metabolic  defect  causes  a  characteristic  triad  of  homogentisic  aciduria,  ochronosis,  and  arthritis.The  cause  of  the  disease  is  a  constitutional  lack  of  the  enzyme  homogentisic  acid  oxidase.  This  enzyme  normally  exists  primarily  in  the  liver  and  kidney.  It  requires  oxygen,  ferrous  iron,  and  sulfhydryl  groups  to  open  the  ring  of  homogentisic  acid.The  condition  is  inherited  as  an  autosomal  recessive  disease.  No  metabolic  method  for  the  detection  of  heterozygotes  has  been  devised;  mutation  analysis  for  this  purpose  is  feasible.  The  molecular  basis  of  alkaptonuria  has  been  demonstrated  to  be  defects  in  the  gene  coding  for  homogentisic  acid  oxidase  (symbol  HGO).  The  AKU  and  HGO  genes  are  the  same  and  map  to  human  chromosome  3q21-q23;  the  nucleotide  sequence  (GenBank  U63008)  is  divided  into  14  exons  over  60  kb  of  genomic  DNA.The  relationships  between  the  metabolic  defect  and  the  complications  ochronosis  and  arthritis  remain  a  challenging  research  problem  of  the  future.  Even  though  the  lack  of  homogentisic  acid  oxidase  is  the  ultimate  cause  of  these  complications,  the  mechanisms  that  bring  them  about  are  unknown.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - ommbid.mhmedical.com/content.aspx?aid=1181436781
ER  -