Disorders of mineral metabolism
Disorders of iron metabolism
- condition in which there is a deviation or interruption in the processing of iron in the body: its absorption, transport, storage, and utilization.
- WHAT: Hemochromatosis: Hemochromatosis: a disorder of iron metabolism characterized by excess deposition of iron in the tissues, especially the liver. It is characterized by pigmentation of the skin, hepatic cirrhosis, decreased carbohydrate tolerance, cardiomyopathy and endocrinopathy (especially hypogonadism). Mainly seen in men over the age of 40 years. It has an associated arthropathy distinguished by involvement of the metacarpophalangeal joints (particularly the second and third), wrists, knees, shoulders, and hips. There is often an associated chondrocalcinosis. WHY: Hemochromatosis is an autosomal recessive disease that produces an arthritis similar to osteoarthritis or pseudogout. HOW: Hemochromatosis is diagnosed by the typical physical and radiographic findings supported by elevated serum iron concentrations and high transferrin saturations. Serum ferritin is also markedly elevated. Confirmation of the diagnosis can be done by demonstrating hepatic iron deposition on liver biopsy.
- condition in which there is a deviation or interruption in the storage of iron in the body.
Disorders of copper metabolism
- rare autosomal recessive disease characterized by the deposition of copper in the brain, liver, cornea and other organs; clinical features include liver cirrhosis, liver failure, splenomegaly, tremor, bradykinesia, dysarthria, chorea, muscle rigidity, Kayser-Fleischer rings (pigmented corneal lesions), ataxia and intellectual deterioration; hepatic dysfunction may precede neurologic dysfunction by several years.
Disorders of magnesium metabolism
- Lower than normal levels of magnesium in the circulating blood.
Disorders of phosphorus metabolism
- genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia; manifestations include severe skeletal defects resembling vitamin D resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes.
- condition in which there is a deviation or interruption in the processing of phosphorus in the body includes its absorption, transport, storage, and utilization.
Disorders of calcium metabolism
Unspecified disorder of calcium metabolism
Hypocalcemia
- reduction of the blood calcium below normal; manifestations include hyperactive deep tendon reflexes, muscle and abdominal cramps, and carpopedal spasm.
- Hypocalcemia; lower than normal levels of calcium in the circulating blood.
Hypercalcemia
- abnormally high level of calcium in the blood; manifestations include fatigability, muscle weakness, depression, anorexia, nausea, and constipation.
- (hye-per-kal-SEE-mee-a) Abnormally high blood calcium.
- Abnormally high concentration of calcium in the peripheral blood. -- 2004
Other disorders of calcium metabolism
- condition characterized by precipitation of calcium phosphate in the tubules of the kidney, with resultant renal insufficiency.
- hereditary condition clinically resembling hypoparathyroidism, but caused by failure of response to rather than deficiency of parathyroid hormones; characterized by hypocalcemia and hyperphosphatemia, and commonly associated with short stature, obesity, short metacarpals, and ectopic calcification.
- Originally reported as a hypocalcemic syndrome similar to hypoparathyroidism, but with renal and skeletal resistance to parathyroid hormone (PTH) and designated as "pseudohypoparathyroidism." Albright later defined a normocalcemic variant which he termed "pseudopseudohypoparathyroidism." Two separate forms of pseudohypoparathyroidism are recognized. Type I in which there is no increase in the urinary excretion of cyclic adenosine monophosphate (cAMP) and phosphate in response to parathyroid hormone (PTH). Type II in which there is a response to PTH, but without phosphate diuresis. The erythrocytes of some patients with type I contain a defective receptor-cyclase coupling protein (stimulatory guanine nucleoside-binding protein, or GS) which is responsible for coupling the cellular receptor that binds parathyroid hormone (PTH) and is involved with the formation and release of cyclic adenosine monophosphate (cAMP). This variant has been designated as "pseudohypoparathyroidism type Ia." The syndrome is associated with mental deficiency, dystrophic bone lesions, short stature, and other defects.
Other specified disorders of mineral metabolism
Unspecified disorder of mineral metabolism
