Question
Patients with this disorder often have musty-smelling skin. For 10 points each:
[10m] Name this inherited genetic disorder caused by a mutation in the PAH gene. If the diet isn't properly controlled during childhood, this disorder often causes microcephaly and neurological impairment.
ANSWER: PKU [or phenylketonuria]
[10e] Because of the mutation of the gene and the absence of the PAH enzyme, individuals with PKU are incapable of converting this large neutral amino acid into tyrosine.
ANSWER: phenylalanine [or Phe; or F]
[10h] A rarer variant of PKU is seen when PAH functions normally, but a defect is observed in the biosynthesis or recycling of this cofactor necessary for the proper function of PAH.
ANSWER: tetrahydrobiopterin [or BH4; or THB]
<Elizabeth Cowan , Science - Biology - Cell/Molecular>
Summary
| 2023 NASAT | 06/17/2023 | Y | 9 | 10.00 | 67% | 33% | 0% |
Data
| California | Kentucky B | 10 | 10 | 0 | 20 |
| Maryland Gold | Illinois White | 10 | 10 | 0 | 20 |
| Asia A | Maryland Red | 0 | 0 | 0 | 0 |
| Kentucky A | Missouri B | 10 | 10 | 0 | 20 |
| New Jersey A | Missouri A | 0 | 10 | 0 | 10 |
| Arkansas | New Jersey B | 0 | 0 | 0 | 0 |
| Ohio | Liberia | 0 | 0 | 0 | 0 |
| Illinois Blue | Pennsylvania | 0 | 10 | 0 | 10 |
| Virginia | Asia B | 0 | 10 | 0 | 10 |