# Methylmalonic Acidemia: A Review of Cases in Jordan

## TL;DR

This study reviews methylmalonic acidemia cases in Jordan to better understand the condition and improve early diagnosis and treatment.

## Contribution

The study provides a comprehensive case series and highlights the need for newborn screening in Jordan.

## Key findings

- Most patients had parental consanguinity and encephalopathy was common.
- Hypoglycemia was the most prevalent laboratory finding among patients.
- Two patients died during the study period, emphasizing the severity of the condition.

## Abstract

Background

This study reviews methylmalonic acidemias (MMAs), one of the organic acid disorders, to create a foundation for future studies by establishing a comprehensive database. Moreover, it contributes to a deeper awareness of the clinical features and outcomes observed in individuals affected by this condition.

Method

This case series includes all MMA diagnoses at the metabolic unit of Queen Rania Al Abdullah Hospital for Children in Amman, Jordan, from 2010 to 2023. The review included sociodemographic features, clinical and laboratory results, familial history, and parental consanguinity.

Results

Our cohort comprised 14 individuals (seven males, seven females) with a mean age at presentation of 12.9 months. Positive family history was observed in 35.7% of cases, and parental consanguinity was observed in 85.7%. Mortality was reported in two patients (14.3%) during the study period at 3.8 and four years of age. Encephalopathy was documented in 57.1%. Failure to thrive and developmental delay were reported in six (42.9%) and five (35.7%) patients, respectively. Hypoglycemia emerged as the most prevalent laboratory finding, affecting 71.4% of cases. Additionally, hearing loss was noted in four patients (28.6%).

Conclusions

Due to the difficulties and delays in diagnosing these organic acidemia disorders, we highly recommend implementing newborn screening as a critical step for early intervention and guidance. For early intervention and guidance, health care professionals should possess a thorough understanding of the clinical manifestations of these disorders and proficiency in interpreting results from biochemical tests.