Browsing by keyword "Malabsorption Syndromes"
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Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto RicoOBJECTIVE: To determine whether subjects of Puerto Rican heritage are at increased risk for a specific mutation of the proton-coupled folate transporter (PCFT) causing hereditary folate malabsorption (HFM). STUDY DESIGN: Three percent of the births in Puerto Rico in 2005, with additional regional oversampling, were screened for the prevalence of the c.1082G>A; p.Y362_G389 del PCFT gene mutation. Six new subjects of Puerto Rican heritage with the clinical diagnosis of HFM were also assessed for this mutation. RESULTS: Six subjects of Puerto Rican heritage with the clinical diagnosis of HFM were all homozygous for the c.1082G>A; p.Y362_G389 del PCFT mutation. Three heterozygote carriers were identified from the 1582 newborn samples randomly selected from births in Puerto Rico in 2005. The carrier frequency for the mutated allele was 0.2% island-wide and 6.3% in Villalba. CONCLUSION: These findings are consistent with a common mutation in the PCFT gene causing HFM that has disseminated to Puerto Ricans who have migrated to mainland United States. Because prompt diagnosis and treatment of infants with HFM can prevent the consequences of this disorder, newborn screening should be considered in high-risk populations and physicians should be aware of its prevalence in infants of Puerto Rican ancestry.
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Vitamin D Status and Adiposity in Pediatric Malabsorption SyndromesBACKGROUND: The combined effects of nutrient malabsorption and adiposity on vitamin D status are unclear in pediatric malabsorption syndromes. AIM: To determine the relationship between adiposity and serum 25-hydroxyvitamin D (25(OH)D) in malabsorption disorders. METHODS: Prepubertal children of ages 3-12 with either lactose intolerance (LI) (n = 38, age 8.61 ± 3.08, male/female 19/19), or celiac disease (CD) (n = 24) were compared to healthy controls (n = 49, age 7.95 ± 2.64, male/female 28/21). A separate cohort of combined prepubertal and pubertal subjects with inflammatory bowel disease (IBD) (n = 59, age 16.4 ± 2.2, male/female 31/27) were also compared to healthy controls (n = 116, male/female 49/67, age 14.6 ± 4.4). Vitamin D deficiency was defined as 25(OH)D of/l, overweight as body mass index (BMI) of ≥85th but <95th >percentile, and obesity as BMI ≥95th percentile. RESULTS: Among the controls, 25(OH)D was significantly higher in the normal-weight prepubertal controls vs. the overweight/obese controls (p = 0.001), and similarly so for the combined cohort of prepubertal and pubertal controls (p = 0.031). In contrast, there was no significant difference in 25(OH)D concentration between the normal-weight vs. overweight/obese patients with LI (p = 0.335), CD (p = 0.387), and IBD (p = 0.883). CONCLUSION: There is no association between adiposity and serum 25(OH)D in pediatric malabsorption syndromes. © 2015 S. Karger AG, Basel.