Infantile type of sialic acid storage disease with sialuria
Humans; Male; infant; Q3 Literature Search; Carbohydrate Metabolism; Fibroblasts/metabolism/ultrastructure; Inborn Errors/metabolism/pathology; Leukocytes/metabolism/ultrastructure; Sialic Acids/metabolism/urine; Vacuoles/metabolism/ultrastructure
We describe a male infant of Austrian ancestry, the main clinical features including attacks of dyspnea due to laryngomalacia, severe mental and motor retardation, pronounced splenohepatomegaly and vacuolisation of peripheral lymphocytes. The clinical condition deteriorated progressively and the child died at the age of 21 months. Phase and electron microscopy of cultured skin fibroblasts showed multiple vacuoles and inclusions suggestive of a lysosomal storage disorder. Increased excretion of free sialic acid was demonstrated by resorcinol staining after routine thin-layer screening for urinary oligosaccharides. Quantitative analyses of urine, leucocytes and cultured fibroblasts revealed 10 to 30-fold increased concentration of free sialic acid. In addition, 3-fold elevated amounts of sialyloligosaccharides were found in the urine. The activities of a variety of lysosomal enzymes, including sialidase, were normal. Our case is compared with infantile sialic acid storage disease recently observed by other authors. The close convergence of clinical, morphological and biochemical signs support the concept of a distinct lysosomal disease entity. The basic defect is so far unknown.
1986
Paschke E; Trinkl G; Erwa W; Pavelka M; Mutz I; Roscher A
Clinical Genetics
1986
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1111/j.1399-0004.1986.tb00514.x" target="_blank" rel="noreferrer">10.1111/j.1399-0004.1986.tb00514.x</a>
The metabolic events of starvation
Humans; Adaptation; Body Weight; Body Composition; Homeostasis; Alanine/me [Metabolism]; Brain/metabolism; Carbohydrate Metabolism; Fasting; Gluconeogenesis; Ketones/metabolism; Kidney/metabolism; Liver/metabolism; Physiological; Proteins/metabolism; Sodium/metabolism; Starvation/metabolism; Triglycerides/metabolism; Water-Electrolyte Balance
1976
Saudek CD; Felig P
The American Journal Of Medicine
1976
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1016/0002-9343(76)90540-4" target="_blank" rel="noreferrer">10.1016/0002-9343(76)90540-4</a>
The biochemical basis of metabolism in cancer cachexia
Humans; Survival Rate; Disease Progression; Neoplasms/complications; Energy Metabolism; Nutritional Failure; Antineoplastic Agents/therapeutic use; Lipid Metabolism; Carbohydrate Metabolism; Proteins/metabolism; Anorexia/etiology; Appetite Stimulants/therapeutic use; Cachexia/etiology/metabolism/mortality/physiopathology/therapy; Cytokines/antagonists & inhibitors/physiology; Hydrazines/therapeutic use; Nutritional Support/methods; Weight Loss
Cancer cachexia is a syndrome of progressive body wasting characterized by loss of adipose tissue and skeletal muscle mass. It is the most common side effect of malignancy occurring in approximately one-half of untreated cancer patients. The pathophysiology of cancer cachexia is not fully understood; however, studies have shown that cytokines are important in the alteration of carbohydrate, lipid, and protein metabolism. This leads to a shorter survival time and a decreased response to therapy. Cachexia is often found before any signs or symptoms of the cancer. An uncertainty with cachexia is whether nutritional support is feeding the patient or the tumor. Often, cachexia is not responsive to simple nutritional interventions. Furthermore, appetite stimulants, cytokine inhibitors, and Cori cycle inhibitors have been used to treat cancer cachexia.
2004
Tijerina AJ
Dimensions Of Critical Care Nursing
2004
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1097/00003465-200411000-00001" target="_blank" rel="noreferrer">10.1097/00003465-200411000-00001</a>