Counseling in medical genetics / Sheldon Reed.

  • Sheldon Clark Reed
Date:
[1980]
Catalogue details

Licence: Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Credit: Counseling in medical genetics / Sheldon Reed. Source: Wellcome Collection.

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    58 / Treatment for Some Genetic Diseases cause should be considered a possible case of Wilson's disease, and the concentra¬ tion of copper and ceruloplasmin in the serum, the urine, and perhaps in the liver must be determined. The sooner the diagnosis is made, the more successful the treatment. The treatment consists of the administration of D-penicillamine, which will mobilize large quantities of copper for excretion from the body. There is no standard dosage and there is, of course, no permanent cure. The defect is genetic and therefore Hfelong, no matter how helpful the treatment is. The results of treatment are usually very rewarding, though there are occasional failures and the patient dies. The reader is again referred to the book edited by Raine [1975] for the mass of details relating to the treatment of this recessive trait. Fabry's Disease The list of inborn errors of metabolism that can be treated would be of great interest to Sir Archibald Garrod, who was the first to comprehend the situation. We cannot consider all the diseases on this hst, but should at least mention Fabry's disease, because it is distinctive from those already considered and is of especial interest here at the Dight Institute where it was a major research objective of Dr. Robert Desnick and his associates. Fabry's disease, angiokeratoma, is of considerable genetic interest because it is X-linked. The gene shows measurable linkage with the Xg^ blood antigen gene. The symptoms of the disease result from the progressive accumulation of the glycohpid, galactosylgalactosylglucosyl ceramide, in most tissues of the body. The metabohc abnormality results from the absence of activity of a-galactosidase. The enzyme is required for the catabohsm of the trihexosyl ceramide. The absence of activity of the enzyme in the hemizygous males results in the deposition of the lipid in various tissues and particularly in the blood vessels of the heart and the kidney. This causes crises of extreme pain in the extremities and ultimately leads to heart or kidney dysfunction. Death usually occurs in adult hfe from renal fail¬ ure or cardiac comphcations. Heterozygous females may exhibit the disease in an attenuated form and are likely to show the characteristic corneal opacities. Telangiectases may be one of the earliest symptoms and may lead to diagnosis in childhood. Treatment should start at once in order to prevent damage from the stored material. Attempts have been made to replace deficient a-galactosidase activity by infu¬ sion of normal plasma. Measurable levels of enzymatic activity were found in the plasma of these patients, and the activity rose in six hours to 150% of the average found in normal plasma. Loss with rapid turnover during the first day resulted in no further activity by the end of a week. Recent efforts have included intravenous injection of highly purified a-galactosidase; these infusions have been extremely encouraging and it is proposed that weekly infusions will be therapeutic for a life¬ time disease. Attempts were made to transplant kidneys, which would function as manufacturing plants to produce ceramide trihexosidase. This was successful.
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