Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease.

ABSTRACT:

Background

Polyamine levels are intricately controlled by biosynthetic, catabolic enzymes and antizymes. The complexity suggests that minute alterations in levels lead to profound abnormalities. We described the therapeutic course for a rare syndrome diagnosed by whole exome sequencing caused by gain-of-function variants in the C-terminus of ornithine decarboxylase (ODC), characterized by neurological deficits and alopecia.

Methods

N-acetylputrescine levels with other metabolites were measured using ultra-performance liquid chromatography paired with mass spectrometry and Z-scores established against a reference cohort of 866 children.

Results

From previous studies and metabolic profiles, eflornithine was identified as potentially beneficial with therapy initia

SUBMITTER: Rajasekaran S 

PROVIDER: S-EPMC8291972 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature