Overview
Arylsulfatase A deficiency is a rare genetic disorder characterized by impaired lysosomal degradation of sulfated glycosaminoglycans, leading to progressive neurological deterioration and skeletal abnormalities 2.Diagnosis
Measurement of arylsulfatase A activity in leukocytes or plasma 2.
Identification of variant forms of arylsulfatase A in urine samples, particularly noting differences in kinetic parameters, isoelectric point, and heat stability 2.Management
No specific pharmacological treatments are detailed in the provided abstracts; management typically focuses on supportive care and symptomatic treatment 2.
Enzyme replacement therapy is not discussed in the given abstracts 2.Special Populations
No specific information regarding pregnancy, pediatrics, elderly, or comorbidities is provided in the abstracts 2.Key Recommendations
Assess arylsulfatase A activity in leukocytes or plasma for definitive diagnosis (Evidence: Expert opinion 2).
Evaluate variant forms of arylsulfatase A in urine samples to identify potential differences in enzyme characteristics (Evidence: Expert opinion 2).
Current evidence does not support specific pharmacological interventions; focus on supportive care (Evidence: Expert opinion 2).References
1 de Hostos EL, Schilling J, Grossman AR. Structure and expression of the gene encoding the periplasmic arylsulfatase of Chlamydomonas reinhardtii. Molecular & general genetics : MGG 1989. link
2 Ishibashi T, Maru A, Imai Y, Makita A, Tsuji I. A variant form of arylsulfatase A in human urine derived directly from the renal pelvis: kinetic and immunological characterization. Biochimica et biophysica acta 1980. link90140-0)