Term
|
Definition
| Most well known aminoacidurias |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| Guthrie Microbial inhibition test |
|
|
Term
| Guthrie Microbial inhibition test uses what? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Alkaptonuria excretion of ? |
|
Definition
|
|
Term
| Alkaptonuria ezyme defect? |
|
Definition
| homogenistic acid osidase |
|
|
Term
|
Definition
|
|
Term
| Alkaptonuria commonly seen in? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Inability of infants to synthesize adequate amount of enzymes |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Type I Tyrosinemia defect enzyme |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| Tyrosine aminotransferrase |
|
|
Term
| Tyrosinemia Screening test |
|
Definition
|
|
Term
|
Definition
|
|
Term
| degradation product of tyrosine in urine |
|
Definition
|
|
Term
| Tyrosluria Screening test |
|
Definition
|
|
Term
| Increased Production of melanin and its precursor |
|
Definition
|
|
Term
| Colorless but turns black when exposed to air |
|
Definition
|
|
Term
| low levels of branched chained keto acid |
|
Definition
| Maple Syrup Urine disease |
|
|
Term
| accumulation of one or more a.a. degradation products |
|
Definition
| Maple Syrup Urine disease |
|
|
Term
| Maple Syrup Urine disease Screening test |
|
Definition
|
|
Term
|
Definition
|
|
Term
| increased amount of tryptophan |
|
Definition
|
|
Term
| defects in renal tubular transport ( CALO) |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| depostion of crystals in cornea , bone marrow , lymph node and internal organs |
|
Definition
|
|
Term
| Hemocystine leading to cataracts |
|
Definition
|
|
Term
|
Definition
|
|
Term
| defect in purine metabolism |
|
Definition
|
|
Term
| Lesch- Nyahan Disease trait |
|
Definition
|
|
Term
| Lesch- Nyahan Disease Gene |
|
Definition
|
|
Term
| Lesch- Nyahan Disease massive excretion |
|
Definition
|
|
Term
| Lesch- Nyahan Disease diaper |
|
Definition
| uric acid resembling orange |
|
|
Term
| Degradation of glymosaminoglycan |
|
Definition
|
|
Term
| elevated during malignancy |
|
Definition
|
|
Term
|
Definition
| Most well known aminoacidurias |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| Guthrie Microbial inhibition test |
|
|
Term
| Guthrie Microbial inhibition test uses what? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Alkaptonuria excretion of ? |
|
Definition
|
|
Term
| Alkaptonuria ezyme defect? |
|
Definition
| homogenistic acid osidase |
|
|
Term
|
Definition
|
|
Term
| Alkaptonuria commonly seen in? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Inability of infants to synthesize adequate amount of enzymes |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Type I Tyrosinemia defect enzyme |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| Tyrosine aminotransferrase |
|
|
Term
| Tyrosinemia Screening test |
|
Definition
|
|
Term
|
Definition
|
|
Term
| degradation product of tyrosine in urine |
|
Definition
|
|
Term
| Tyrosluria Screening test |
|
Definition
|
|
Term
| Increased Production of melanin and its precursor |
|
Definition
|
|
Term
| Colorless but turns black when exposed to air |
|
Definition
|
|
Term
| low levels of branched chained keto acid |
|
Definition
| Maple Syrup Urine disease |
|
|
Term
| accumulation of one or more a.a. degradation products |
|
Definition
| Maple Syrup Urine disease |
|
|
Term
| Maple Syrup Urine disease Screening test |
|
Definition
|
|
Term
|
Definition
|
|
Term
| increased amount of tryptophan |
|
Definition
|
|
Term
| defects in renal tubular transport ( CALO) |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| depostion of crystals in cornea , bone marrow , lymph node and internal organs |
|
Definition
|
|
Term
| Hemocystine leading to cataracts |
|
Definition
|
|
Term
|
Definition
|
|
Term
| defect in purine metabolism |
|
Definition
|
|
Term
| Lesch- Nyahan Disease trait |
|
Definition
|
|
Term
| Lesch- Nyahan Disease Gene |
|
Definition
|
|
Term
| Lesch- Nyahan Disease massive excretion |
|
Definition
|
|
Term
| Lesch- Nyahan Disease diaper |
|
Definition
| uric acid resembling orange |
|
|
Term
| Degradation of glymosaminoglycan |
|
Definition
|
|
Term
| elevated during malignancy |
|
Definition
|
|
Term
|
Definition
| Most well known aminoacidurias |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| Guthrie Microbial inhibition test |
|
|
Term
| Guthrie Microbial inhibition test uses what? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Alkaptonuria excretion of ? |
|
Definition
|
|
Term
| Alkaptonuria ezyme defect? |
|
Definition
| homogenistic acid osidase |
|
|
Term
|
Definition
|
|
Term
| Alkaptonuria commonly seen in? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Inability of infants to synthesize adequate amount of enzymes |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Type I Tyrosinemia defect enzyme |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| Tyrosine aminotransferrase |
|
|
Term
| Tyrosinemia Screening test |
|
Definition
|
|
Term
|
Definition
|
|
Term
| degradation product of tyrosine in urine |
|
Definition
|
|
Term
| Tyrosluria Screening test |
|
Definition
|
|
Term
| Increased Production of melanin and its precursor |
|
Definition
|
|
Term
| Colorless but turns black when exposed to air |
|
Definition
|
|
Term
| low levels of branched chained keto acid |
|
Definition
| Maple Syrup Urine disease |
|
|
Term
| accumulation of one or more a.a. degradation products |
|
Definition
| Maple Syrup Urine disease |
|
|
Term
| Maple Syrup Urine disease Screening test |
|
Definition
|
|
Term
|
Definition
|
|
Term
| increased amount of tryptophan |
|
Definition
|
|
Term
| defects in renal tubular transport ( CALO) |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| depostion of crystals in cornea , bone marrow , lymph node and internal organs |
|
Definition
|
|
Term
| Hemocystine leading to cataracts |
|
Definition
|
|
Term
|
Definition
|
|
Term
| defect in purine metabolism |
|
Definition
|
|
Term
| Lesch- Nyahan Disease trait |
|
Definition
|
|
Term
| Lesch- Nyahan Disease Gene |
|
Definition
|
|
Term
| Lesch- Nyahan Disease massive excretion |
|
Definition
|
|
Term
| Lesch- Nyahan Disease diaper |
|
Definition
| uric acid resembling orange |
|
|
Term
| Degradation of glymosaminoglycan |
|
Definition
|
|
Term
| elevated during malignancy |
|
Definition
|
|
