RT Book, Section
A1 Hay, Jr, William W.
A1 Levin, Myron J.
A1 Deterding, Robin R.
A1 Abzug, Mark J.
SR Print(0)
ID 1145455570
T1 Galactosemia
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=1145455570
RD 2024/04/25
AB Severely  deficient  neonates  present  with  vomiting,  jaundice,  and  hepatomegaly  on  initiation  of  lactose-containing  feedingsRenal  Fanconi  syndrome,  cataracts  of  the  ocular  lens,  hepatic  cirrhosis,  and  sepsis  occur  in  untreated  childrenDelayed,  apraxic  speech  and  ovarian  failure  occur  frequently  even  with  treatmentDevelopmental  delay,  tremor,  and  ataxia  occur  less  frequentlyClassic  galactosemia  is  caused  by  almost  total  deficiency  of  galactose-1-phosphate  uridyltransferaseDisorder  is  autosomal  recessive  with  an  incidence  of  approximately  1:40,000  live  births