TY - CHAP M1 - Book, Section TI - Galactosemia A1 - Hay, Jr, William W. A1 - Levin, Myron J. A1 - Deterding, Robin R. A1 - Abzug, Mark J. Y1 - 2017 N1 - T2 - Quick Medical Diagnosis & Treatment Pediatrics 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 SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1145455570 ER -