Evaluation of Metabolic Changes in Acute Intermittent Porphyria Patients by Targeted Metabolomics.

ABSTRACT: Acute intermittent porphyria (AIP) is an inherited rare hepatic disorder due to mutations within the hydroxymethylbilane gene. AIP patients with active disease overproduce aminolevulinic acid (ALA) and porphobilinogen (PBG) in the liver which are exported inducing severe neurological attacks. Different hepatic metabolic abnormalities have been described to be associated with this condition. The goal of this research was to explore the metabolome of symptomatic AIP patients by state-of-the art liquid chromatography-tandem mass spectrometry (LC-MS/MS). A case versus control study including 18 symptomatic AIP patients and 33 healthy controls was performed. Plasmatic levels of 51 metabolites and 16 ratios belonging to four metabolic pathways were determined. The results showed that the AIP pat

SUBMITTER: Gomez-Gomez A 

PROVIDER: S-EPMC8950560 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature