Examining the blood amino acid status in pretherapeutic patients with  hyperphenylalaninemia.

ABSTRACT:

Background

Hyperphenylalaninemia is the most common genetic metabolic disease. Early treatment prevents brain injury effectively. The present study aimed to detect the exact amino acid status of patients with hyperphenylalaninemia before treatment.

Methods

Data of 116 newborn patients from our Newborn Screening Center and 161 older patients from our clinic before treatment were collected. The content of 17 amino acids in their blood was determined by tandem mass spectrometry and compared with normal controls. Relationship between phenylalanine and other amino acids in patients was analyzed using the smoothing curve fitting and threshold effect analysis.

Results

Most amino acids in the blood of patients were within the normal range; however, they were different signifi

SUBMITTER: Liang L 

PROVIDER: S-EPMC7083473 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature