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)

A case of pseudoarylsulfatase A deficiency in an adolescent boy presenting with affective lability, impulsivity, aggression, inattention, and academic difficulties is described. Genetically related to metachromatic leukodystrophy, pseudoarylsulfatase A deficiency has generally been felt to be a benign disorder. Pseudodeficiency of arylsulfatase A has, however, been associated with serious psychiatric morbidity in recent studies. Possible explanations for this association are suggested. To the best of the authors' knowledge, this is the first case report of pseudoarylsulfatase A deficiency in a psychiatrically disturbed adolescent.
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PMID:Pseudoarylsulfatase A deficiency in a psychiatrically disturbed adolescent. 256 27

Mucopolysaccharidosis Type IIIA (MPS IIIA) or Sanfilippo-A syndrome is caused by a deficiency in lysosomal a-heparan N-sulfatase. Its clinical manifestations include progressive dementia, hyperactivity, and aggressive behavior. Unlike other mucopolysaccharide disorders, the diagnosis of MPS IIIA is challenging in both adults and children. This diagnostic challenge has been associated with the high incidence of false negative results encountered on urinary screening tests. We herein describe Sanfilippo-A syndrome in a pediatric patient who presented with progressive hyperactivity, delayed language, and developmental delay and a negative urine screening test. We emphasized that these findings may serve as possible initial presentations of MPS IIIA; therefore, screening for MPS should be done in all patients with unexplained psychomotor retardation and progressive hyperactivity.
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PMID:Delayed speech, hyperactivity, and coarse facies: Does Sanfilippo syndrome come to mind? 2785 9