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 4 1/2 year old boy without previous neurologic disorders developed chronic hemorrhagic pancreatitis and was shown to have polyposis of the gallbladder. Neurologic symptoms emerged at the age of 5 years. The sonographic pattern of an echogenic gallbladder was suspect of metachromatic leukodystrophy. The definitive diagnosis was made by the findings of very low arylsulfatase A activity in the white blood cells and deposits of sulfatides in the stroma of the polyps of the gallbladder.
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PMID:[Chronic hemorrhagic pancreatitis in gallbladder polyposis as an initial symptom of metachromatic leukodystrophy]. 287 6

Metachromatic leukodystrophy is a lysosomal storage disease caused by the deficiency of the enzyme arylsulfatase A. If arylsulfatase A is deficient, sulfatide accumulates. Functionally, this accumulation results in progressive neurological deterioration. The reports about the extra nervous system manifestations of metachromatic leukodystrophy are related to the gallbladder involvement such as polyposis. Unexplained vomiting began in a 5½-year-old girl with late infantile metachromatic leukodystrophy. Endoscopy showed multiple polypoid masses in the pylor of the stomach and duodenum. Severe gastrointestinal bleedings occurred during nasogastric feeding. Intestinal intussusception developed later. To the authors' knowledge, intestinal polypoid masses and obstruction with metachromatic leukodystrophy have not previously been reported. The persistent vomiting may be a symptom of intestinal obstruction due to intestinal polypoid masses with metachromatic leukodystrophy. There may be a trend for the development of polypoid masses in intestine as well as in the gallbladder in metachromatic leukodystrophy.
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PMID:Intestinal involvement in metachromatic leukodystrophy. 2121 58

Metachromatic leukodystrophy (MLD) is a rare sphingolipid storage disorder caused by arylsulfatase A (ARSA) deficiency, resulting in central and peripheral demyelination. However, an uncommon form of MLD caused by saposin B deficiency is also described (around 10 mutations reported till date). MLD is a systemic disorder affecting the central and peripheral nervous system, gall bladder, and kidneys. Acute flaccid paralysis as the initial clinical presentation is previously known in ARSA-deficient MLD. Hereby, we report a child with acute flaccid paralysis with brain magnetic resonance imaging showing nonspecific periventricular leukodystrophy. He had progressive cognitive decline with gall bladder polyposis. ARSA levels were within normal limits. Leukodystrophy gene panel revealed a homozygous pathogenic deletion (Lys227del variant) in prosaposin (PSAP) gene. Hence, a final diagnosis of saposin B-deficient MLD was established. The index case highlights the importance of clinical and electrophysiological clues in the diagnosis of such atypical presentations of MLD.
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PMID:Saposin B-Deficient Metachromatic Leukodystrophy Mimicking Acute Flaccid Paralysis. 3131 25