Albinism is a common symptom of this disorder due to the inability to produce melanin.
Symptoms of this disease are also seen in patients with defective dihydrofolate reductase, which reduces the cofactor BH4. This disease can be treated with sapropterin hydrochloride, which replaces tetrahydrobiopterin. Individuals with this disease often have musty-smelling skin. Though this disease does not result in the buildup of homogentisic acid, it's caused by a defect in the same pathway, and was the first inborn error of metabolism to have a proven biochemical basis. It leads to buildup of phenylpyruvic acid in the urine. Albinism is a common symptom of this disorder due to the inability to produce melanin. This recessive autosomal disorder is caused by a defect in the PAH gene. Its sufferers cannot consume aspartame. For 10 points, name this inability to metabolize phenylalanine.
Symptoms of this disease are also seen in patients with defective dihydrofolate reductase, which reduces the cofactor BH4.
phenylketonuria [or PKU]