Glycogen storage disease type 1a in the Ohio Amish.

Glycogen storage disease type 1a (GSD1a) is an inborn error of glucose metabolism characterized by fasting hypoglycemia, hepatomegaly, and growth failure. Late complications include nephropathy and hepatic adenomas. We conducted a retrospective observational study on a cohort of Amish patients with GSD1a. A total of 15 patients cared for at a single center, with a median age of 9.9 years (range 0.25-24 years) were included. All patients shared the same founder variant in GCPC c.1039 C > T. The phenotype of this cohort demonstrated good metabolic control with median cohort triglyceride level slightly above normal, no need for continuous overnight feeds, and a higher quality of life compared to a previous GSD cohort. The most frequent complications were oral aversion, gross motor delay, and renal hyperfiltration. We discuss our unique care delivery at a single center that cares for Amish patients with inherited disorders.

Contribution of Maternal Obesity to Medically Indicated and Elective Formula Supplementation in a Baby-Friendly Hospital.

Objective: Determine if maternal obesity increases use of medically indicated or elective formula in the context of a Baby-Friendly Hospital with high prevalence of obesity. Study Design: We conducted a secondary analysis of mothers who initiated breastfeeding of their term, singleton infant born at a Baby-Friendly community hospital in 2016. We defined medically indicated as formula given per physician order; and elective as formula given per maternal request. We used multinomial logistic regression to determine the odds ratio (OR) and 95% confidence interval (95% CI) for medically indicated and elective formula (each versus exclusive breastfeeding) by obesity status. We adjusted for available covariates and mediating conditions that may be exacerbated by obesity. Results: A total of 1,245 mothers met inclusion criteria, of which 41% were obese. Exclusive breastfeeding, medically indicated formula, and elective formula were 84% versus 70%, 5% versus 12%, and 11% versus 18%, in nonobese versus obese women, respectively. After adjusting for covariates, obesity significantly increased the risk for medically indicated (OR 2.6 [95% CI 1.7-4.1]) and elective (OR 2.0 [95% CI 1.5-2.8]) formula. After additionally adjusting for conditions exacerbated by obesity, the risk of medically indicated formula was attenuated by 48% (OR 1.7 [95% CI 1.02-2.7]), and there was little attenuation of the risk of elective formula (OR 1.8 [95% CI 1.3-2.6]). Conclusions: In a setting with high obesity prevalence and strong support for exclusive breastfeeding, obesity accounted for 36% of medically indicated formula and 21% of elective formula use. In this era of globally increasing maternal obesity prevalence, there is an urgent need to develop successful strategies for supporting breastfeeding that goes above and beyond standard Baby-Friendly approaches.