• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.99-106
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• 2018

Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

• Journal of Preventive Medicine and Public Health
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• v.26 no.4 s.44
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• pp.628-649
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• 1993

This study was conducted to investigate the factors related to the poor school performance of the elementary school children. Two schools in Taegu, one in the affluent area and the other in the poor area, were selected and a total of 175 children whose school performance was within low 10 percentile (poor performers) and 97 children whose school performance were within high 5 percentile (good performers) in each class of 2nd, 4th and 6th grades were tested for the physical health, behavioral problem and family background. Each child had gone through a battery of tests including visual and hearing acuity, anthropometry (body weight, height, head circumference), intelligence (Kodae Stanford-Binet test), test anxiety (TAI-K), neurologic examination by a developmental pediatrician and heavy metal content (Pb, Cd, Zn) in hair by atomic absorption spectrophotometry. A questionnaire was administered to the mothers for prenatal and prenatal courses of the child, family environment, child's developmental history, and child's behavioral and learning problems. Another questionnaire was administered to the teachers of the children for the child's family background, arithmatic & language abilities and behavioral problem. The poor school performance had a significant correlation with male gender, high birth order, broken home, low educational and occupational levels of parents, visual problem, high test anxiety score, attention deficit hyperactivity disorder (ADHD), poor physical growth (weight, height, head circumference) and low I.Q. score. The factors that had a significant correlation with the poor school performance in multiple logistic regression analysis were child's birth order (odds ratio=2.06), male gender(odds ratio=5.91), broken home(odds ratio=9.29), test anxiety score(odds ratio=1.07), ADHD (odds ratio=9.67), I.Q. score (odds ratio=0.85) and height less than Korean standard mean-1S.D.(odds ratio=11.12). The heavy metal contents in hair did not show any significant correlation with poor school performance. However the lead and cadmium contents were high in males than in females. The lead content was negatively correlated with child's grade(P<0.05) and zinc was positively correlated with grade (P<0.05). among the factors that showed a significant correlation with the poor school performance, high birth order, short stature and ADHD may be modified by a good family planning, good feeding practice for infant and child, and early detection and treatment of ADHD. Also, teacher and parents should restrain themselves from inducing excessive test anxiety by forcing the child to study and over-expecting beyond the child's intellectual capability.