Long-term clinical course of a patient with mucopolysaccharidosis type IIIB
Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation,...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2016-11-01
|
| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-59-S37.pdf |
| _version_ | 1818192563557892096 |
|---|---|
| author | Ja Hye Kim Yang Hyun Chi Gu-Hwan Kim Han-Wook Yoo Jun Hwa Lee |
| author_facet | Ja Hye Kim Yang Hyun Chi Gu-Hwan Kim Han-Wook Yoo Jun Hwa Lee |
| author_sort | Ja Hye Kim |
| collection | DOAJ |
| description | Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction. He had been hospitalized owing to recurrent pneumonia and epilepsy with severe cognitive dysfunction. The patient had compound heterozygous c.1444C>T (p.R482W) and c.1675G>T (p.D559Y) variants of NAGLU. Considering that individuals with MPS IIIB have less prominent facial features and skeletal changes, evaluation of long-term clinical course is important for diagnosis. Although no effective therapies for MPS IIIB have been developed yet, early and accurate diagnosis can provide important information for family planning in families at risk of the disorder. |
| first_indexed | 2024-12-12T00:32:30Z |
| format | Article |
| id | doaj.art-e4b76ccf4ea14e70b1b92400aefeed07 |
| institution | Directory Open Access Journal |
| issn | 1738-1061 2092-7258 |
| language | English |
| last_indexed | 2024-12-12T00:32:30Z |
| publishDate | 2016-11-01 |
| publisher | Korean Pediatric Society |
| record_format | Article |
| series | Korean Journal of Pediatrics |
| spelling | doaj.art-e4b76ccf4ea14e70b1b92400aefeed072022-12-22T00:44:27ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582016-11-0159Suppl 1S37S4010.3345/kjp.2016.59.11.S3720125553431Long-term clinical course of a patient with mucopolysaccharidosis type IIIBJa Hye Kim0Yang Hyun Chi1Gu-Hwan Kim2Han-Wook Yoo3Jun Hwa Lee4Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea.Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea.Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction. He had been hospitalized owing to recurrent pneumonia and epilepsy with severe cognitive dysfunction. The patient had compound heterozygous c.1444C>T (p.R482W) and c.1675G>T (p.D559Y) variants of NAGLU. Considering that individuals with MPS IIIB have less prominent facial features and skeletal changes, evaluation of long-term clinical course is important for diagnosis. Although no effective therapies for MPS IIIB have been developed yet, early and accurate diagnosis can provide important information for family planning in families at risk of the disorder.http://kjp.or.kr/upload/pdf/kjped-59-S37.pdfMucopolysaccharidosis IIIAlpha--acetyl-D-glucosaminidaseLysosomal storage diseases |
| spellingShingle | Ja Hye Kim Yang Hyun Chi Gu-Hwan Kim Han-Wook Yoo Jun Hwa Lee Long-term clinical course of a patient with mucopolysaccharidosis type IIIB Korean Journal of Pediatrics Mucopolysaccharidosis III Alpha--acetyl-D-glucosaminidase Lysosomal storage diseases |
| title | Long-term clinical course of a patient with mucopolysaccharidosis type IIIB |
| title_full | Long-term clinical course of a patient with mucopolysaccharidosis type IIIB |
| title_fullStr | Long-term clinical course of a patient with mucopolysaccharidosis type IIIB |
| title_full_unstemmed | Long-term clinical course of a patient with mucopolysaccharidosis type IIIB |
| title_short | Long-term clinical course of a patient with mucopolysaccharidosis type IIIB |
| title_sort | long term clinical course of a patient with mucopolysaccharidosis type iiib |
| topic | Mucopolysaccharidosis III Alpha--acetyl-D-glucosaminidase Lysosomal storage diseases |
| url | http://kjp.or.kr/upload/pdf/kjped-59-S37.pdf |
| work_keys_str_mv | AT jahyekim longtermclinicalcourseofapatientwithmucopolysaccharidosistypeiiib AT yanghyunchi longtermclinicalcourseofapatientwithmucopolysaccharidosistypeiiib AT guhwankim longtermclinicalcourseofapatientwithmucopolysaccharidosistypeiiib AT hanwookyoo longtermclinicalcourseofapatientwithmucopolysaccharidosistypeiiib AT junhwalee longtermclinicalcourseofapatientwithmucopolysaccharidosistypeiiib |