Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.6.1 (sulfatase)
 3,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Long-term follow-up of three children with early-onset chronic inflammatory demyelinating polyneuropathy is presented. A 3-year-old male (Patient 1) manifested initially progressive muscle weakness during 6 months with spontaneous regression, followed by two severe relapses at 5 and 6 years of age. Decreased arylsulfatase A activity was present in Patient 1 (17.6) and his family members (24.1-40 nmol/mg/hour). Arterial hypertension up to 20/12 kPa was present in two patients in the initial phase associated with muscle stiffness, occasional meningism, and left ventricular hypertrophy in one of them (Patient 3). Subsequently, they both developed two mild relapses at 3.5 and 6 years of age. Clinical outcome was excellent in all three cases, although clinical course, therapy response, and electrophysiologic outcome was quite different in the only patient with low arylsulfatase A activity. The significance of this difference is discussed.
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PMID:Long-term follow-up of children with chronic relapsing polyneuropathy. 1199 57