# Is Beta Ketothiolase Deficiency an Uncommon Disease or an Unsuspected Diagnosis? The Role of Genetic Biochemistry Approaches in Metabolic Acidosis

## TL;DR

This paper discusses beta ketothiolase deficiency, a rare genetic disorder, and highlights the importance of early diagnosis to prevent severe complications in infants.

## Contribution

The paper presents a case study emphasizing the role of genetic biochemistry in diagnosing metabolic acidosis in a 9-month-old infant.

## Key findings

- A 9-month-old girl was diagnosed with beta ketothiolase deficiency during her first episode of metabolic ketoacidosis.
- Early diagnosis and intervention are crucial to prevent complications or death in affected infants.

## Abstract

Beta ketothiolase deficiency is a hereditary metabolic disorder caused by the pathogenic variants of the ACAT gene, which encodes for the mitochondrial enzyme acetoacetyl-CoA thiolase. Patients with a deficiency of the enzyme experience recurrent episodes of metabolic ketoacidosis. Knowledge of the clinical course of this entity, together with the available diagnostic tests, allows for its early diagnosis and prompt intervention to avoid complications or death of the infant. In this study, we present a case of a 9-month-old girl that attended the emergency room and diagnosis was made at the first episode of metabolic ketoacidosis.