1. New CTSA mutation in early infantile galactosialidosis.
- Author
-
Aldámiz‐Echevarría, Luis, Couce, M. Luz, Villate, Olatz, Fernández‐Marmiesse, Ana, and Piñán, M. Ángeles
- Subjects
LYSOSOMAL storage diseases ,NEONATAL necrotizing enterocolitis ,ASCITES ,DNA ,MICROSCOPY ,GENETIC mutation ,OSTEOPOROSIS ,PROTEOLYTIC enzymes ,SPLEEN diseases ,THIN layer chromatography ,URINALYSIS ,SEQUENCE analysis ,GENETICS ,DIAGNOSIS - Abstract
A case study of a male patient with early infantile galactosialidosis and the identification of a novel mutation in CTSA. Topics discussed include observation of an increase in abdominal volume with abdominal distension, cutis marmorata, bilateral hydrocele and high blood pressure; clinical, biochemical and nutritional assessment performed; and the absence of GLB1 activity confirmed the diagnosis of galactosialidosis in leukocytes.
- Published
- 2018
- Full Text
- View/download PDF