More than 950 phenylalanine hydroxylase (PAH) gene variants have been identified in
people with phenylketonuria (PKU). These vary in their consequences for the residual level …

Detection of individuals with phenylketonuria (PKU), an autosomal recessively inherited
disorder in phenylalanine degradation, is straightforward and efficient due to newborn …

Tyrosine hydroxylase (TH) catalyzes the rate-limiting step in the biosynthesis of dopamine
(DA) and other catecholamines, and its dysfunction leads to DA deficiency and …

To attain functionality, proteins must fold into their three-dimensional native state. The
intracellular balance between protein synthesis, folding, and degradation is constantly …

Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low
clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (HMBS) …

Galactosemia, an inborn error of galactose metabolism, was first described in the 1900s by
von Ruess. The subsequent 100 years has seen considerable progress in understanding …

Protein misfolding induced by missense mutations is the source of hundreds of
conformational diseases. The cell quality control may eliminate nascent misfolded proteins …

Inborn errors of metabolism are single gene disorders resulting from the defects in the
biochemical pathways of the body. Although these disorders are individually rare …

Approximately forty percent of diseases are attributable to protein misfolding, including those
for which genetic mutation produces misfolding mutants. Intriguingly, many of these mutants …

Proteostatic regulation of tyrosine hydroxylase (TH), the rate‐limiting enzyme in dopamine
biosynthesis, is crucial for maintaining proper brain neurotransmitter homeostasis. Variants …