Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hyperphenylalaninemia
Comorbidity C0031485|phenylketonuria
Sentences 1
PubMedID- 24466168 The urine 2-hydroxyphenylacetate concentration is increased in patients with phenylketonuria [19]–[22]: due to severe hyperphenylalaninemia, phenylalanine is metabolized via a by-path to phenylpyruvate, 2-hydroxyphenylacetate, phenyllactate, and phenylacetate.

Page: 1