Observational Study
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Pediatr. Jul 9, 2022; 11(4): 369-374
Published online Jul 9, 2022. doi: 10.5409/wjcp.v11.i4.369
Children with lysinuric protein intolerance: Experience from a lower middle income country
Syed Bilal Hashmi, Sibtain Ahmed
Syed Bilal Hashmi, Sibtain Ahmed, Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi 74800, Pakistan
Author contributions: Ahmed S designed and conceived the idea, assisted in the write-up of the first draft and critically reviewed the manuscript; Hashmi SB performed the data collection, literature review and the majority of the write-up in the first draft.
Institutional review board statement: Study commenced after approval was obtained from the institutional ethics committee (No. 2018-0553-894).
Conflict-of-interest statement: No conflict-of-interest to declare.
Data sharing statement: Dataset available from the corresponding author at ude.uka@demha.niatbis. Consent was not obtained as the presented data are anonymized and risk of identification is low.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Sibtain Ahmed, FCPS, MBBS, Assistant Professor, Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, National Stadium Rd, Karachi 74800, Pakistan. sibtain.ahmed@aku.edu
Received: December 29, 2021
Peer-review started: December 29, 2021
First decision: March 16, 2022
Revised: March 21, 2022
Accepted: June 3, 2022
Article in press: June 3, 2022
Published online: July 9, 2022
Research background

Lysinuric protein intolerance (LPI) is an inherited metabolic disorder caused by alterations in the SLC7A7 gene.

Research motivation

To create awareness among the clinical community and describe the spectrum of this rare disorder in Pakistan.

Research objectives

To present the biochemical and clinical presentation of cases with suggestive LPI in Pakistan.

Research methods

Descriptive cross sectional study.

Research results

Six cases with a suggestive diagnosis of LPI based on amino acid profiling were reported.

Research conclusions

Although clinical manifestations appeared in the first 2 years of life, a delay in diagnosis was evident.

Research perspectives

A high rate of inherited metabolic disorders in Pakistan is known.