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Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities.
Genet Couns. 2013; 24(1):7-12.GC

Abstract

Mucolipidosis type III (MLIII) (MIM# 252600) is an uncommon autosomal recessive disorder that results from deficiency of the multimeric enzyme, UDP-N-acetylglucosamine-1-phosphotransferase. The enzymatic defect results in deficiencies of lysosomal degradative enzymes with concomitant intracellular accumulation of both partly degraded glycosaminoglycans and sphingolipids leading to clinical manifestations such as short stature, developmental delay and other structural abnormalities. The diagnosis is challenging since musculoskeletal presentation may mimic some of the rheumatic and metabolic disorders. We herein report on a 13-year-old adolescent who was admitted to our rheumatology clinic because of progressive joint stiffness and deformities of her hands. The clinical and radiological findings led us to the diagnosis of MLIII despite negative urinary aminoglycosyaminoglycans. Therefore we decided to check for the presence of elevated activities of alpha-mannosidase and beta-hexosaminidase A+B in the plasma which was actually the case and confirmed the clinical diagnosis ofMLIII.

Authors+Show Affiliations

Pediatric Genetics Unit, Ihsan Dogramaci Children's Hospital, Hacettepe University, Ankara, Turkey. pelinozlem@hacettepe.edu.trNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

23610860

Citation

Simsek-Kiper, P O., et al. "Mucolipidosis Type III in an Adolescent Presenting With Atypical Facial Features and Skeletal Deformities." Genetic Counseling (Geneva, Switzerland), vol. 24, no. 1, 2013, pp. 7-12.
Simsek-Kiper PO, Topaloglu R, Sahin Y, et al. Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities. Genet Couns. 2013;24(1):7-12.
Simsek-Kiper, P. O., Topaloglu, R., Sahin, Y., Utine, G. E., & Boduroglu, K. (2013). Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities. Genetic Counseling (Geneva, Switzerland), 24(1), 7-12.
Simsek-Kiper PO, et al. Mucolipidosis Type III in an Adolescent Presenting With Atypical Facial Features and Skeletal Deformities. Genet Couns. 2013;24(1):7-12. PubMed PMID: 23610860.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities. AU - Simsek-Kiper,P O, AU - Topaloglu,R, AU - Sahin,Y, AU - Utine,G E, AU - Boduroglu,K, PY - 2013/4/25/entrez PY - 2013/4/25/pubmed PY - 2013/6/29/medline SP - 7 EP - 12 JF - Genetic counseling (Geneva, Switzerland) JO - Genet. Couns. VL - 24 IS - 1 N2 - Mucolipidosis type III (MLIII) (MIM# 252600) is an uncommon autosomal recessive disorder that results from deficiency of the multimeric enzyme, UDP-N-acetylglucosamine-1-phosphotransferase. The enzymatic defect results in deficiencies of lysosomal degradative enzymes with concomitant intracellular accumulation of both partly degraded glycosaminoglycans and sphingolipids leading to clinical manifestations such as short stature, developmental delay and other structural abnormalities. The diagnosis is challenging since musculoskeletal presentation may mimic some of the rheumatic and metabolic disorders. We herein report on a 13-year-old adolescent who was admitted to our rheumatology clinic because of progressive joint stiffness and deformities of her hands. The clinical and radiological findings led us to the diagnosis of MLIII despite negative urinary aminoglycosyaminoglycans. Therefore we decided to check for the presence of elevated activities of alpha-mannosidase and beta-hexosaminidase A+B in the plasma which was actually the case and confirmed the clinical diagnosis ofMLIII. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/23610860/Mucolipidosis_type_III_in_an_adolescent_presenting_with_atypical_facial_features_and_skeletal_deformities_ L2 - http://www.diseaseinfosearch.org/result/4906 DB - PRIME DP - Unbound Medicine ER -