RT Book, Section
A1 Hay, Jr, William W.
A1 Levin, Myron J.
A1 Deterding, Robin R.
A1 Abzug, Mark J.
SR Print(0)
ID 1145456180
T1 Homocystinuria
T2 Quick Medical Diagnosis & Treatment Pediatrics
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9781264257614
LK accesspediatrics.mhmedical.com/content.aspx?aid=1145456180
RD 2024/04/25
AB Consider  in  a  child  of  any  age  with  a  marfanoid  habitus,  dislocated  lenses,  or  thrombosisDiagnosis  is  suggested  by  elevated  total  homocysteine  and  methionineNewborn  screening  allows  early  diagnosis  and  treatment  resulting  in  a  normal  outcomeMost  often  due  to  deficiency  of  cystathionine  β-synthase  (CBS)May  also  be  due  to  deficiency  of  methylenetetrahydrofolate  reductase  (MTHFR)  or  to  defects  in  the  biosynthesis  of  methyl-B12,  the  coenzyme  for  methionine  synthaseAll  inherited  forms  of  homocystinuria  are  autosomal  recessive  traits