MUCOLIPIDOSIS II INFANTS PRESENTING WITH SKELETAL DEFORMITIES MIMICKING RICKETS AND A NEW MUTATION IN GNPTAB GENE

NUR B., ERDOGAN Y., CUREK Y., AKCAKUS M., OYGÜR N., BIRCAN I., ...Daha Fazla

GENETIC COUNSELING, cilt.27, sa.3, ss.373-380, 2016 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 3
  • Basım Tarihi: 2016
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.373-380
  • Anahtar Kelimeler: Lysosomal storage disease, Mucolipidosis II, Infant, Hyperphosphatasia, Rickets, CELL-DISEASE
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Mucolipidosis II infants presenting with skeletal deformities mimicking rickets and a new mutation in GNPTAB gene: Mucolipidosis II or I-cell disease is a rare lysosomal enzyme hydrolase trafficking due to deficient activity of the multimeric enzyme UDP-Nacetylglucosamine-1-phosphotransferase. It is a severe inborn error of lysosomal storage that causes progressive multisystem deterioration and death within the first year of life. The diagnosis of ML II is often difficult in an infant due to clinical variety, phenotypic overlap and the enzyme analysis required. Mucolipidosis II and rickets may have similar physical, biochemical and radiographic findings in newborns. The diagnosis of Mucolipidosis II is often missed, as it may present with rickets-like picture. In this article, we describe two neonatal mucolipidosis II patients mimicking rickets, and we evaluated them by clinical, metabolic and imaging findings via literature and also emphasized the difficulties in diagnosis of this rare disease.