Acrodermatitis enteropathica (AE) is an autosomal recessive disorder with the clinical triad of acral dermatitis, diarrhea and alopecia. AE is known to be caused by mutations of the SLC39A4 gene on the chromosome band 8q24.3, encoding the zinc transporter in human. An 8-month-old Korean boy presented with eczematous changes on the inguinal area and knees and was diagnosed with AE. Blood tests revealed a markedly decreased level of plasma zinc, and his symptoms improved on oral zinc replacement. To confirm the diagnosis of AE from congenital zinc deficiency, direct sequencing analysis of SLC39A4 was performed and revealed that he was compound heterozygous for a known missense mutation (Arg95Cys) and a novel splicing mutation in the donor site of intron 7 (c.1287+2T>C). Family study showed that his parents were heterozygous carriers of the mutations. To the best of our knowledge, this is the first report of genetically confirmed AE in Korea.
Acrodermatitis/congenital/diagnosis/genetics ; Alternative Splicing ; Cation Transport Proteins/*genetics ; Chromosomes, Human, Pair 8 ; Heterozygote ; Humans ; Infant ; Male ; Mutation, Missense ; Sequence Analysis, DNA ; Zinc/blood/*deficiency

This study was conducted to investigate the effect of a 3 week low calorie diet (LCD) and a 9 week of behavior modification (BM) program on the weight loss, mineral and vitamin status in 22 obese women. The subject were healthy, obese (PIBW > 120%) women aged 20 - 50 Yr and not taking any medications known to influence body composition, mineral or vitamin metabolism During the LCD program, subjects were provided commercial liquid formulas with 125 kcal per pack and were instructed to have a formula for replacement of one meal and at least one regular meal per day within the range of daily 800 - 1200 kcal intake. During the BM program the subjects weekly attended the group nutrition counseling session to encourage themselves to modify their eating behavior and spontaneously restrict their energy intakes. The BM program focused on stimulus control, control of portion sizes and modification of binge eating and other adverse habits. The initial mean energy intake of subjects was 2016.9 +/- 129.8 kcal (100.8% of RDA) and dropped to 1276.5 +/- 435.7 kcal at the end of a 3 week of LCD program and elevated to 1762 +/- 329.3 kcal at the end of a 9 week of BM program. Carbohydrate, protein and fat intakes were significantly decreased at the end of the LCD but carbohydrate was the only macro nutrient that showed significant decrease (p < 0.05) at the end of the BM program compared to baseline. Calcium and iron intakes decreased significantly (p < 0.01, respectively) with no significant changes in other micronutrients at the end of the LCD. The mean weight of the subjects decreased from 73.8 +/- 8.0 kg to 69.2 +/- 7.7 kg with LCD and ended up with 67.7 +/- 7.1 kg after 9 weeks of BM. The 3 weeks of LCD reduced most of the anthropometric indices such as BMI, PIBW, fat weight, wast-to-hip ratio and subscapular and suprailiac skinfold thickness. The 9 weeks of behavior modification showed slight change or maintenance of each anthropometric measurements. Weight loss and decreased WHR with the diet program induced significantly decreased systolic blood pressure. SGOT, SGPT and serum insulin levels with improved serum lipid profiles. Biochemical parameters related to iron status such as hemoglobin, hematocrit were significantly decreased (p < 0.01) at the end of the LCD. But their mean values were within normal range. The mean serum 25 (OH) vitamin D3 level significantly increased after whole diet program. Serum folate level significantly decreased after 12 weeks of diet program. In conclusion 3 weeks of LCD brought 4.6 kg reduction in body weight without risk of iron, zinc or vitamin D deficiency and 9 weeks of the BM was effective to maintain nutritional status with slightly more weight reduction (1.5 kg). However calcium intake and serum folate should be monitored during the LCD and BM because of increased risk of deficiencies..
Alanine Transaminase ; Aspartate Aminotransferases ; Behavior Therapy* ; Blood Pressure ; Body Composition ; Body Weight ; Bulimia ; Calcium ; Caloric Restriction* ; Cholecalciferol ; Counseling ; Diet ; Energy Intake ; Feeding Behavior ; Female ; Folic Acid ; Hematocrit ; Humans ; Insulin ; Iron ; Meals ; Metabolism ; Micronutrients ; Nutritional Status* ; Portion Size ; Reference Values ; Skinfold Thickness ; Vitamin D Deficiency ; Vitamins ; Weight Loss ; Zinc

OBJECTIVETo study the influence of zinc deficiency on bone mineralization.

METHODSThirty Wistar rats were randomly divided into three groups with ten in each group, i.e., zinc-deficient group (ZD), control group, and pair-fed group. Histomorphological changes of bone mineralization, bone mineral content and bone density, bone contents of zinc, calcium, phosphorus, magnesium, manganese, copper and hydroxyproline, and serum levels of parathyroid hormone, calcitonin and osteocalcin in the rats were measured.

RESULTSThe results showed that the mineral deposit rate and bone contents of zinc, phosphorus and hydroxyproline, and serum levels of calcitonin and osteocalcin lowered significantly in ZD group, as compared with those in the control and pair-fed groups, with (3.26 +/- 0.34) micro m/d, (64.54 +/- 2.34) g/kg, (54.4 +/- 9.5) mg/kg, (9.28 +/- 1.62) g/kg, (41.2 +/- 13.5) micro g/L, (82 +/- 30) micro g/L in ZD group; (5.37 +/- 0.53) micro m/d, (69.01 +/- 4.05) g/kg, (117.4 +/- 8.0) mg/kg, (11.31 +/- 1.30) g/kg, (68.3 +/- 14.4) micro g/L, (131 +/- 46) micro g/L in the control group; and (5.45 +/- 0.30) micro m/d, (67.81 +/- 3.56) g/kg, (106.7 +/- 8.4) mg/kg, (10.88 +/- 1.47) g/kg, (63.7 +/- 12.0) micro g/L, (120 +/- 52) micro g/L in the pair-fed group, respectively. While the time for mineralization lag and osteoid maturation obviously prolonged, (1.08 +/- 0.19) d and (7.12 +/- 2.30) d in ZD group, (0.39 +/- 0.06) d and (2.21 +/- 1.12) d in the control group, and (0.40 +/- 0.06) d and (2.12 +/- 0.58) d in the pair-fed group, respectively. In addition, bone mineral content and bone density and serum parathyroid hormone in ZD group decreased significantly and were lower than those in the control group, but not significantly different from those in the pair-fed group. There were no significant difference in femoral contents of calcium, magnesium, manganese and copper between the ZD group and the control and pair-fed groups.

CONCLUSIONSZinc deficiency could lower the contents of parathyroid hormone and calcitonin in blood circulation affecting bone mineral deposit and causing defect in bone mineralization.

Animals ; Bone Density ; physiology ; Bone and Bones ; metabolism ; Calcification, Physiologic ; physiology ; Calcitonin ; blood ; Female ; Male ; Parathyroid Hormone ; blood ; Random Allocation ; Rats ; Rats, Wistar ; Zinc ; deficiency

Liver infarction and acrodermatitis enteropathica are rare complications of chronic pancreatitis. This report shows the case of a 56-year-old man who developed liver infarction due to portal vein thrombosis from chronic pancreatitis and acrodermatitis enteropathica during the course of his treatment. The rare combination of these complications in a patient with chronic pancreatitis has never previously been reported in the literature.
Acrodermatitis/*etiology/pathology/therapy ; Chronic Disease ; Human ; Infarction/*etiology ; Liver/*blood supply ; Male ; Middle Aged ; Pancreatitis/*complications ; Portal Vein ; Venous Thrombosis/complications/etiology ; Zinc/administration & dosage/deficiency