Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA
- Shunji Tomatsu
- Kazuo Okamura
- Takeshi Taketani
- Koji O. Orii
- Tatsuo Nishioka
- Monica A. Gutierrez
- Susana Velez-castrillon
- Angela A. Fachel
- Jeffrey H. Grubb
- Alan Cooper
- Margaret Thornley
- Luis A. Barrera
- Roberto Giugliani
- Ida V. Schwartz
- Gudrun Schulze Frenking
- Michael Beck
- Susanne G. Kircher
- Eduard Paschke
- Seiji Yamaguchi
- Kurt Ullrich
- Koji Isogai
DOIAbstract
Mucopolysaccharidosis IVA (MPS IVA), a progressive lysosomal storage disease, causes skeletal dysplasia through excessive storage of keratan sulfate (KS). We developed an ELISA-sandwich assay that used a MAb specific to KS. Forty-five blood and 59 urine specimens from MPS IVA patients (ages 1–65 y) were analyzed to determine whether KS concentration is a suitable marker for early diagnosis and longitudinal assessment of disease severity. Blood specimens were obtained from patients categorized as phenotypically severe (n 36
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