History of MPS

//History of MPS
History of MPS 2017-04-28T05:15:59+00:00

History of MPS

The history of these diseases begins in the early years of the 20th century when a child was seen in the Royal Infirmary in Edinburgh. He had all the features later to become familiar as being characteristic of mucopolysaccharide storage diseases. Not knowing anything about the diseases, the physicians called it “Johnny McL’s disease”.

Then, in 1917, two patients were reported in the medical literature by Dr. Hunter from Winnipeg. Two years later a patient was recorded by Dr. Hurler in Germany. All of these patients exhibited coarse features, an enlarged liver and spleen, clawing of the hands and bony deformities. The German patient was severely developmentally delayed.

The reports by Drs. Hunter and Hurler were later read by other physicians and it became obvious that there were other children who looked like the patients and had similar characteristics. The eponym for the condition became Hurler Syndrome. Worthy of note is that the first careful description of the disease was made here in Canada.

Timeline of Discovery

Note that dates are approximate.

1917
Hunter Syndrome first described.

1919
Hurler Syndrome first described.

1952
Hunter and Hurler Syndromes first recognized as being caused by a build-up of mucopolysaccharides. Prior to this, they had been thought to be caused by a build-up of lipids (fats). The term mucopolysaccharidosis is first used.

1957
Urine from a patient with Hurler Syndrome is shown to have higher than normal levels of the mucopolysaccharides dermatan sulphate and heparan sulphate.

1961
Sanfilippo Syndrome recognised as being a separate disease. Prior to this it had been considered as a form of Hurler Syndrome.

1962
Scheie Syndrome is first described. Morquio syndrome is first described.

1963
Maroteaux-Lamy Syndrome is first described.

1964
Hunter, Hurler and Sanfilippo Syndromes were first thought to be caused by enzyme defects.

1966
Cultured skin cells (fibroblasts) from patients with Hunter, Hurler and Sanfilippo Syndromes were shown to accumulate mucopolysaccharides (GAGs).

1968
Co-culturing of fibroblasts from Hunter patients with fibroblasts from Hurler patients corrected this accumulation of GAGs. The enzyme defect in Hunter patients could be overcome by an enzyme present in Hurler patients, and vice versa.

1969
Direct enzyme (Arylsulphatase 8) test for Maroteaux-Lamy is available.

1970
Hurler and Scheie Syndromes are thought to be allelic – different mutations of the same gene.

1971
Sanfilippo Syndrome is first sub-classified into two types, A and B. Exact enzyme defect in Hurler Syndrome is recognized as a-L-iduronidase. Enzyme defect in Hunter Syndrome is thought to be some sort of sulphatase.

1972
Direct enzyme test is available for Hurler Syndrome. Enzyme defect in Scheie Syndrome is found to be the same as that in Hurler Syndrome. Enzyme defect in Sanfilippo B shown to be N-acetyl-glucosaminidase.

1973
Enzyme defect in Sanfilippo A shown to be N-heparan-sulphatase. Sly Syndrome recognized and enzyme defect shown to be a-L-iduronosulphate sulphatase. First report of Hunter Syndrome affecting a girl. Direct enzyme test for Sanfilippo B available.

1974
Direct enzyme test for Sanfilippo A available. Direct enzyme test for Hunter Syndrome available. Multiple Sulphatase Deficiency (MSD) shown to be deficient of many enzymes including idurono-sulphate sulphatase (this enzyme is deficient in Hunters syndrome), Arylsulphate A (this is deficient in Metachromatic Leukodystrophy), Arylsulphatase B (this is deficient in Maroteaux-Lamy Syndrome), Arylsulphatase C, and Cholesterol sulphatase.

1976
Morquio syndrome sub-classified into two types- A & B. Exact enzyme defect in Morquio B found to be B-galactosidase, for which a direct enzyme test is available.

1978
Exact enzyme defect in Morquio B is found to be N-acetyl-galactosamine 6-sulphate sulphatase. Sanfilippo type C first described. Exact enzyme defect is acetyl CoA: a-glucosamine N acetyl transferase.

1980
Sanfilippo type D first described. Exact enzyme defect is N acetyl glucosamine 6-sulphate sulphatase.