Spectrum of Aminoacidopathies and Organicacidemias in Children Presenting as Neurodevelopmental delay or regression with or without seizures.

Spectrum of Aminoacidopathies and Organic acidemias in children.

Abstract

Abstract

Objective: To determine Spectrum of Aminoacidopathies and organic acidemias in children presenting as neuro developmental delay or regression without or with convulsions.

Study Design

Descriptive Prospective study.

Place and Duration of Study

Pediatric Neurology department, Children Hospital & Institute of Child Health, Faisalabad during from January 2017 to December 2022.

Material and Methods

This descriptive study enrolled 72 children with developmental delay or regression from January 2017-Decemeber 2022 by consecutive sampling. Children belonging to age group of 1 month to 16 years, any gender, were included in the study. Data of clinical and laboratory features with diagnosis was recorded on proforma. Data analysis was performed by SPSS version 26 using descriptive statistics to determine the frequency and spectrum of Aminoacidopathies and organic acidemias.

Results

Mean age of participants in years was 2.15+2.59. Consanguinity was reported in 87.5% enrolled subjects.  Regarding Developmental status, developmental regression was present in 14(19.4%), and developmental delay in 58 (80.6%). Developmental delay was further classified as global developmental delay      35(60.34%), Intellectual Disability2(3.44%)            & Motor milestones delay 21(36.20%). Diagnosis was Organic acidemias in            44(61.1%), Aminoacidopathies in 12 (16.7%), others in 7(9.7%) and nondiagnostic profile in 9(12.5%).

Conclusion

Frequency of organic acidemias (Biotin responsive multiple carboxylase deficiency, Methyl melonic Acidemia Glutaric Aciduria) is very high followed by Aminoacidopathies (Phenylalaninemia, Hyperprolinemia) in developmental delay or regression.

Key words

Neurometabolic disorders, Global developmental delay, developmental regression,