Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders

Article Abstract:

The mucopolysaccharidoses are genetic disorders caused by a deficiency of lysosomal enzymes, proteins that break down other proteins and carbohydrates. This deficiency is associated with the accumulation of glycosaminoglycans, protein and carbohydrate compounds, which are excreted in the urine. Mucolipidosis III, a related genetic disorder, is caused by deficiency of an enzyme involved in the production of certain lysosomal enzymes and has clinical features similar to those of the mucopolysaccharidoses. Carpal tunnel syndrome is a nerve disease that may be associated with mucopolysaccharidoses and mucolipidosis III. Carpal tunnel syndrome is characterized by soreness, tenderness, and weakness of the muscles of the thumb, and is caused by pressure on the median nerve at a point where the nerve enters a structure called the carpal tunnel in the wrist. The incidence and age of onset of carpal tunnel syndrome were assessed in 18 patients with either mucopolysaccharidoses or mucolipidosis III. Carpal tunnel syndrome was detected in 17 patients, although all patients lacked symptoms of this disorder. These results show that carpal tunnel syndrome is a common complication of the mucopolysaccharidoses and mucolipidosis III. Patients with these genetic disorders should be tested for carpal tunnel syndrome, as early diagnosis improves the chance that the patient will respond well to surgery. (Consumer Summary produced by Reliance Medical Information, Inc.)

Risk factors, Lysosomes, Carpal tunnel syndrome, Mucopolysaccharidosis, Mucopolysaccharidoses

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No sensory neuropathy during pyridoxine treatment in homocystinuria

Article Abstract:

Homocystinuria is a genetic disorder resulting from a deficiency in cystathionine synthase, an enzyme involved in the metabolism of homocystine, a compound similar in structure to the sulfur-containing amino acid cystine. This hereditary disease leads to mental retardation, abnormal structure of the lens in the eye, frequent seizures, liver disease, and delayed growth. Pharmacological doses of pyridoxine, also known as vitamin B-6, may lead to improvement in up to 50 percent of patients with homocystinuria. A diet low in the amino acid methionine is used to manage patients who do not respond to treatment with pyridoxine. The factors that influence responsiveness to pyridoxine are not known. Treatment with large doses of pyridoxine may be complicated by damage to the sensory nerves. The effects of large doses of pyridoxine on nerve function were assessed in 17 patients with homocystinuria due to cystathionine synthase. Pyridoxine was given in doses of 200 to 600 milligrams each day for 10 to 24 years. Neurological disorders were not detected in any of the patients treated with large doses of pyridoxine. These findings suggest that treatment with large doses of pyridoxine over a long duration does not cause adverse effects on the function of the nervous system. (Consumer Summary produced by Reliance Medical Information, Inc.)

Abnormalities, Testing, Afferent pathways, Peripheral nerve diseases, Peripheral nervous system diseases, Vitamin B6, Pyridoxine, Homocystinuria

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Diagnosis and management of inborn errors of metabolism

Article Abstract:

Inborn errors of metabolism are fairly uncommon, but require quick, experienced diagnoses to secure a nonhandicapped, quality life. A swift diagnosis can be aided by awareness on the part of the physician of signs revealed by family history, physical examination and biochemical and blood tests. Precautionary steps may be taken to handle the infant until a positive diagnosis is made. For example, several inborn errors are responsive to vitamins, and large corrective doses of essential vitamins may be given. Often electrolyte imbalance and acidosis are characterized by hyperventilation, and the use of a respirator may be required in such cases. In any event, once the metabolic error has been identified, each disease is managed by distinctive treatment such as dietary restrictions or supplements, drug therapy, or regular kidney dialysis. If treatment is unsuccessful and the child should die, blood, cerebrospinal fluid and urine samples should be collected along with tissue samples, if possible, so that important information can be learned about the cause of death. (Consumer Summary produced by Reliance Medical Information, Inc.)

Diagnosis, Metabolism, Inborn errors of, Inborn errors of metabolism

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