| phosphohexose isomerase deficiency | <enzyme> An enzyme deficiency characterised by chronic nonspherocytic haemolytic anaemia; autosomal recessive inheritance. Synonym: phosphohexose isomerase deficiency. (05 Mar 2000) |
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| placental sulfatase deficiency | <enzyme> An enzyme defect in the placenta which results in failure of conversion of 16a-hydroxydehydroepiandrosterone to estriol; women with this condition rarely enter into spontaneous labour. (05 Mar 2000) |
| platelet storage pool deficiency | A group of disorders characterised by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5ht are normally stored. (12 Dec 1998) |
| congenital antithrombin III deficiency | Antithrombin III is a protein which stimulates the removal of blood clots in the bloodstream. Small blood clots form normally within the bloodstream, but are normally dissolved via the bodys antithrombin III. The deficiency of antithrombin III will result in an increased risk for blood clot formation causing organ damage. This is an inherited as a autosomal dominant trait. Inheritance: autosomal dominant. (27 Sep 1997) |
| multiple carboxylase deficiency | Abnormalities in carbohydrate and branched-chain amino acid catabolism that are responsive to biotin therapy. It may be due to deficiency of propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, biotinidase, or propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and pyruvate carboxylase. (12 Dec 1998) |
| multiple endocrine deficiency syndrome | <syndrome> Acquired deficiency of the function of several endocrine glands, usually on an auto-immune basis. Synonym: multiple glandular deficiency syndrome. (05 Mar 2000) |
| congenital protein C or s deficiency | This inherited disorder of blood coagulation is characterised by a deficiency of vitamin K dependent plasma proteins (C and s) that are naturally occurring anticoagulants. This disorder results in an increased risk of blood clot formation within the circulatory system. (27 Sep 1997) |
| multiple glandular deficiency syndrome | <syndrome> Acquired deficiency of the function of several endocrine glands, usually on an auto-immune basis. Synonym: multiple glandular deficiency syndrome. (05 Mar 2000) |
| multiple sulfatase deficiency | An inherited disorder (autosomal recessive) in which there is a failure to hydrolyze sulfatides and sulfated mucopolysaccharides; this failure leads to their accumulation in neural and extraneural tissues causing demyelination, sulfatiduria, facial and skeletal dysmorphism, etc. (05 Mar 2000) |
| muscle phosphorylase deficiency | Type V glycogen storage disease, affecting muscle, caused by deficiency of muscle phosphorylase. (05 Mar 2000) |
| corpus luteum deficiency syndrome | <syndrome> Functional disturbances caused by insufficient ovarian luteinization; reflected by inadequate luteal phase endometrial response. (05 Mar 2000) |
| polyendocrine deficiency syndrome | <syndrome> Polyglandular deficiency syndrome, associated pathologic dysfunction of several endocrine glands, as in Schmidt's syndrome. (05 Mar 2000) |
| myophosphorylase deficiency glycogenosis | Glycogenosis due to muscle glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in muscle. Synonym: McArdle's disease, McArdle's syndrome, McArdle-Schmid-Pearson disease, myophosphorylase deficiency glycogenosis. (05 Mar 2000) |
| potassium deficiency | A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhoea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (merck manual, 16th ed) (12 Dec 1998) |
| hageman factor deficiency | A deficiency of a specific blood clotting factor (XII) that may be genetic or acquired. Administration of heparin or severe liver disease may result in factor XII (Hageman factor) deficiency. There are usually no symptoms associated with this deficiency, but there may be symptoms of mild blood loss in some cases. Treatment is generally unnecessary. Individuals should be cautioned against the use of medications (for example aspirin, warfarin, heparin) with anticoagulant activity, due to risk of exaggerated effects. (27 Sep 1997) |