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Results for “DEFICIENCY DISEASES”

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At least 145 records · Page 8Linked to original sources
PubMed1992

Niemann-Pick type-C disease: deficient intracellular transport of exogenously derived cholesterol.

NPC disease is an autosomal recessive neurovisceral storage disorder. A pleiotropic array of secondary enzymatic and storage abnormalities has in the past obscured a cohesive understanding of the underlying metabolic basis of this disorder. Recent findings, reviewed in this report, demonstrate that NPC disease is a cholesterol lipidosis resulting from defective intracellular cholesterol transport. The sequence of cellular events characteristic of NPC is 1) deficient intracellular transport of exogenously derived cholesterol resulting in retarded induction of cellular cholesterol homeostatic regulation; 2) accumulation of cholesterol in lysosomes; and 3) secondary cellular effects. Retarded esterification of exogenous cholesterol and accumulation of unesterified cholesterol in lysosomes is tightly coupled to the primary defect and serves as the basis for biochemical diagnosis of NPC.

Antigens, CD↗
PubMedDate not supplied

[Multiple sclerosis: a multi-specific immune deficiency disease].

New immunological data (Brit. med. J., 1976, 1, 183-186) lead us to a fundamental reconsideration of the immunopathological concept of multiple sclerosis (MS). The increased incidence of the infection rate during childhood, the low humoral and cell-mediated immune responses towards many bacterial and viral antigens and the presence of these specific immune deficiencies in a group of doubtful MS cases being at the first bout of the disease, led us to consider MS as a multi-specific immune deficiency disease, possibly having its origin in the genes controlling the immune response to these specific antigens. We now consider MS as being the end result of multi-specific immune deficiencies, which would explain the increased incidence of tonsillectomies, appendicectomies and repeated infections during childhood and the presence of numerous small inflammatory and pyrexic processes, often benign, but susceptible to cause in the target tissue--the central nervous tissue--the demyelinization process which could well be not specific at all. This new optic opens the way to the use of different immunotherapy regimens including transfer factor or whole lymphokines, and stimulation of the immune response with immunological adjuvants rather than immunosuppressive agents used during recent years (like steroids, ACTH) which have an antiinflammatory as well as an immunosuppressive function.

Antibody Specificity↗
PubMed1981

Some outstanding problems in the detection of trace element deficiency diseases.

Knowledge of the functional roles of many essential trace elements has grown rapidly. Despite this, it is rarely possible to relate this information to observed pathological consequences of deficiency. Few studies of the effect of deficiency upon enzyme activity have attempted to determine whether such changes influence substrate-product relations and thus may have pathological significance. Evidence that the differing susceptibility of tissues to deficiency may reflect metabolic activity or the lifespan of cells and their organelles is considered. The need is growing for more effective biochemical diagnostic techniques for the early detection of covert pathological changes in trace element deficient subjects. Progress towards satisfying this need will reflect the future availability of information from which to predict the nature of rate-limiting metabolic defects in sensitive populations of cells.

Animals↗
PubMed1984

[Late infantile form of Pompe's disease. Deficiency of alpha-1,4-glucosidase (acid maltase)].

Four patients with late infantile form of Pompe's disease, acid maltase deficiency, are presented. In three of them an autosomical recessive genetical transmission was demonstrated. Signs of neuromuscular involvement were present in all of our patients before four years of age. All cases had elevated muscle and liver enzymes. Echocardiographic studies revealed a septal hypertrophy in three patients. Presence of myotonic discharges on EMG examination suggested the diagnosis in three cases. Pathological and biochemical studies of two siblings, one of them aged 14 months, without clinical findings, demonstrated that the enzyme in late infantile form of acid maltase deficiency is missing from birth. Clinical and pathological muscular involvement of case number 4, in front of normal amounts of acid maltase in this muscle, must alert clinicians to perform enzymatic studies in various tissues in order to confirm diagnosis and better understand biochemical basis of the disease.

Adolescent↗