Canadian Medical Guide > Diseases > Nutritional and Metabolic Diseases > Metabolic Diseases Terms and Definitions

Metabolic Diseases

Medical Definition:	Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)
Guide Notes:	GEN: prefer specifics; TN 194: differentiate from DEFICIENCY DISEASES; DF: METAB DIS

Metabolic Diseases Categories.

	Acid-Base Imbalance - Disturbances in the ACID-BASE EQUILIBRIUM of the body.
	Amyloidosis - A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition. As the AMYLOID deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.
	Calcium Metabolism Disorders - Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.
	Glucose Metabolism Disorders - Pathological conditions in which the BLOOD GLUCOSE cannot be maintained within the normal range, such as in HYPOGLYCEMIA and HYPERGLYCEMIA. Etiology of these disorders varies. Plasma glucose concentration is critical to survival for it is the predominant fuel for the CENTRAL NERVOUS SYSTEM.
	Hyperammonemia - Metabolic disorder characterized by elevated level of ammonia in blood.
	Hyperamylasemia - A condition with abnormally elevated level of AMYLASES in the serum. Hyperamylasemia due to PANCREATITIS or other causes may be differentiated by identifying the amylase isoenzymes.
	Hyperbilirubinemia - Pathologic process consisting of an abnormal increase in the amount of BILIRUBIN in the circulating blood, which may result in JAUNDICE.
	Hyperlipidemia - An excess of lipids in the blood.
	Hyperoxaluria - Excretion of an excessive amount of oxalate in the urine.
	Hyperuricemia - Excessive URIC ACID or urate in blood as defined by its solubility in plasma at 37 degrees C; greater than 0.42mmol per liter (7.0mg/dL) in men or 0.36mmol per liter (6.0mg/dL) in women. This condition is caused by overproduction of uric acid or impaired renal clearance. Hyperuricemia can be acquired, drug-induced or genetically determined (LESCH-NYHAN SYNDROME). It is associated with HYPERTENSION and GOUT.
	Hypervitaminosis A - A symptom complex resulting from ingestion of excessive amounts of vitamin A.
	Iron Metabolism Disorders - Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)
	Mitochondrial Diseases - Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
	Ochronosis - A disease in which the metabolic products of phenylalanine and tyrosine accumulate, resulting in the deposition of HOMOGENTISIC ACID (a brown-black pigment) in the connective tissue. It occurs in ALKAPTONURIA, but has also been observed in connection with exposure to certain chemicals (e.g., phenol, trinitrophenol, benzene derivatives).
	Phosphorus Metabolism Disorders - Disorders in the processing of phosphorus in the body: its absorption, transport, storage, and utilization.
	Wasting Syndrome - Any disease marked especially by progressive emaciation and weakness. (Dorland, 28th ed, p490)
	Water-Electrolyte Imbalance - Disturbances in the body's WATER-ELECTROLYTE BALANCE.

Metabolic Diseases Medical Definitions and Terms

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