Variants in <i>GSTZ1</i> Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review.

ABSTRACT:

Introduction

Elevated succinylacetone (SA) is the hallmark of tyrosinemia type 1, which requires immediate treatment. Mild SA elevation has also been recently reported in maleylacetoacetate isomerase deficiency (MAAID).

Methods

We report on two cases of MAAID, review clinical features of MAAID and discuss its management.

Results

Both cases displayed elevated SA and normal Tyrosine levels at newborn screening. Case 1 showed intermittent SA elevation; Nitisinone and dietary treatment were started, then discontinued after the identification of two variants in the GSTZ1 gene and the definitive diagnosis of MAAID. Case 2, showing no SA elevation at the confirmatory tests and two variants in the GSTZ1 gene, did not start treatment. mRNA analysis confirmed the

SUBMITTER: Barretta F 

PROVIDER: S-EPMC12470001 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature