Term
|
Definition
| Homogentisic acid in the urine caused by a failure to inherit the gene responsible for the production of homogentisic acid oxidase |
|
|
Term
|
Definition
| An inherited recessive disorder that disrupts the metabolism of cystine |
|
|
Term
|
Definition
| Cystine in the urine that occurs as a result of a defect in the renal tubular reabsorption of amino acids |
|
|
Term
|
Definition
| The presence of galactose in the urine |
|
|
Term
|
Definition
| The presence of homocystine in the urine caused by an inherited autosomal recessive disorder |
|
|
Term
| Inborn error of metabolism |
|
Definition
| Failure to inherit the gene to produce a particular enzyme |
|
|
Term
|
Definition
| The presence of indican in the urine |
|
|
Term
|
Definition
| An inherited sex-linked recessive purine metabolism disorer marked by excess uric acid crystals in the urine |
|
|
Term
| Maple syrup urine disease |
|
Definition
| An autosomal recessive trait that causes increased levels of the branched-chain amino acids, leucine, isoleucine, valine and their ketone acids in the urine |
|
|
Term
|
Definition
| Increased melanine in the urine |
|
|
Term
|
Definition
|
|
Term
|
Definition
| A group of genetic disorders marked by excess mucopolysaccharides in the blood and urine |
|
|
Term
|
Definition
| The accumulation of organic acids in the blood, mainly isovalaric, propionic, and methylmalonic acids |
|
|
Term
|
Definition
| The presence of abnormal phenylalanine metabolites in the urine |
|
|
Term
|
Definition
| The presence of porphyrins in the urine |
|
|
Term
|
Definition
| The presence of tyrosine in the urine |
|
|
