| inborn | Born in or with; implanted by nature; innate; as, inborn passions. Synonym: Innate, inherent, natural. (27 Oct 1998) |
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| inborn error of metabolism | A genetic biochemical disorder of a specific enzyme that forms a metabolic block, e.g., phenylketonuria. (05 Mar 2000) |
| inborn errors of metabolism | Term coined by A. Garrod in 1908 applying to heritable disorders of biochemistry. Examples include albinism, cystinuria (a cause of kidney stones) and phenylketonuria (pku) are a few of the hundreds of inborn errors of metabolism. (12 Dec 1998) |
| inborn lysosomal disease | Inherited disorder of one or more degradative enzymes normally located in lysosomes leading to accumulation (storage) of abnormal quantities of a substance, such as a glycosaminoglycan as in Hurler's syndrome or a lipopolysaccharide as in Gaucher's disease. (05 Mar 2000) |
| inborn reflex | A reflex such as breathing that is innate. (05 Mar 2000) |
| renal tubular transport, inborn errors | Genetically determined disorders of the reabsorptive functions of the kidney with regard to specific nephron segments responsible for specific transport functions, classifiable by proximal nephron function, loop of henle function, and distal nephron function. The transport defects can be selective or nonselective. (12 Dec 1998) |
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| pyruvate metabolism, inborn errors | Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders. (12 Dec 1998) |
| fructose metabolism, inborn errors | Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosaemia, but with no clinical dysfunction; may produce a false-positive diabetes test. (12 Dec 1998) |