Mucopolysaccharidosis type I (MPS I), caused by mutations in the gene encoding α-L-iduronidase (IDUA), is one of approximately 70 genetic disorders collectively known as the lysosomal storage diseases. To gain insight into the basis for MPS I, we crystallized human IDUA produced in an Arabidopsis thaliana cgl mutant. IDUA consists of a TIM barrel domain containing the catalytic site, a β-sandwi...

LETTER TO ETITOR G6PD (Glucose-6-Phosphate Dehydrogenase) enzyme deficiency is the most common inherited enzyme deficiency so far reported. 1 This enzyme deficiency affects 400 million people worldwide. 2 Most cases of the disease are from tropical regions of Africa, the Middle East, tropical and subtropical regions of Asia and the Mediterranean margin, arise from the process of natural selecti...

BACKGROUND Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of alfa-iduronidase (IDUA), which leads to intralysosomal accumulation of glysosaminoglycans. Evidences point secondary events like oxidative stress on lysosomal storage diseases including MPS I. Patients with MPS I present a wide range of oral clinical manifestations, including tongue hypertrophy, hypertrophyc alveolar p...

Background: Aromatic L-amino acid decarboxylase (AADC) deficiency is caused by mutations in the dopa gene leading to reduced AADC enzyme activity; it characterized motor impairments and inability attain developmental milestones.

A 47-year-old Turkish male was scheduled for laparoscopic cholecystectomy under general anesthesia. The patient had 2 operations 28 and 19 years ago under general anesthesia. It was learned that the patient was administered succinylcholine during both of these previous operations and that he did not have a history of prolonged recovery or postoperative apnea. The patient had been using sertrali...

Enzyme replacement therapies have revolutionized patient treatment for multiple rare lysosomal storage diseases but show limited effectiveness for addressing pathologies in "hard-to-treat" organs and tissues including brain and bone. Here we investigate the plant lectin RTB as a novel carrier for human lysosomal enzymes. RTB enters mammalian cells by multiple mechanisms including both adsorptiv...

BACKGROUND We sought to develop a tandem mass spectrometry assay in which the enzymatic activities of 3 lysosomal enzymes (α-glucosidase, α-galactosidase A, and α-l-iduronidase) could be quantified in dried blood spots by using a single assay buffer. METHODS A 3-mm dried blood spot punch was incubated in a single assay buffer with 3 different substrates and internal standards. The sample was ...

The complementary and genomic DNA segments of the a-L-iduronidase gene from two Chinese mucopolysaccharidosis type I Hurler/Scheie (MPS IHIS) patients were amplified by polymerase chain reaction (PCR) and DNA sequencing was done to study their molecular lesions. Patient W3 has heterozygous mutations; the maternal allele has MII (G to A transition in the initiation codon ATG) and the paternal al...

An octasaccharide with high affinity for antithrombin, isolated after partial deaminative cleavage of heparin, was previously found to have an L-iduronosyl-N-acetylglucosaminyl-6-O-sulfate nonreducing terminal disaccharide unit. After digestion of this octasaccharide with alpha-L-iduronidase and N-acetylglucosamine-6-sulfate sulfatase, two fractions, with high and low affinity for antithrombin,...