Ontology highlight
ABSTRACT:
SUBMITTER: Fridovich-Keil JL
PROVIDER: S-EPMC3063539 | biostudies-literature | 2011 Apr
REPOSITORIES: biostudies-literature
Fridovich-Keil Judith L JL Gubbels Cynthia S CS Spencer Jessica B JB Sanders Rebecca D RD Land Jolande A JA Rubio-Gozalbo Estela E
Journal of inherited metabolic disease 20101027 2
Primary or premature ovarian insufficiency (POI) is the most common long-term complication experienced by girls and women with classic galactosemia; more than 80% and perhaps more than 90% are affected despite neonatal diagnosis and careful lifelong dietary restriction of galactose. In this review we explore the complexities of timing and detection of galactosemia-associated POI and discuss potential underlying mechanisms. Finally, we offer recommendations for follow-up care with current options ...[more]