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Hyper prolinuria and hyper-hydroxy prolinuria in children with mental retardation
M Swarna1, A Jyothy, P Usha Rani
1Institute of Genetics and Hospital for Genetic Diseases, Begumpet, 500 016 Hyderabad, A.P. India.
Indian Journal of Clinical Biochemistry : IJCB
|October 30, 2012
Summary
This study screened 3,000 individuals with mental retardation for amino acid disorders. Two rare cases, hyperprolinuria and hyperprolinuria with hyperhydroxyprolinuria, were identified in Andhra Pradesh.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Amino acid disorders are a group of metabolic diseases that can cause significant health problems, including intellectual disability.
- Early detection and diagnosis are crucial for managing these conditions and improving patient outcomes.
- Screening programs play a vital role in identifying individuals with these rare genetic disorders.
Purpose of the Study:
- To screen a cohort of 3,000 individuals with mental retardation for amino acid disorders.
- To identify and report cases of specific amino acid abnormalities, particularly hyperprolinemia, within the studied population.
- To document the first reported instances of these conditions in Andhra Pradesh.
Main Methods:
- A cohort of 3,000 patients with mental retardation, referred from various hospitals, was selected for the study.
- Screening for amino acid disorders was performed using established biochemical assays.
- Diagnostic confirmation and characterization of identified cases were conducted.
Main Results:
- Out of 3,000 screened individuals, two cases with amino acid disorders were detected.
- One case presented with hyperprolinuria (elevated proline levels in urine).
- A second case exhibited both hyperprolinuria and hyperhydroxyprolinuria (elevated proline and hydroxyproline levels in urine).
Conclusions:
- The study successfully identified rare amino acid disorders in a population with mental retardation.
- The findings highlight the importance of biochemical screening for amino acid disorders in individuals with unexplained intellectual disability.
- These represent the inaugural reports of hyperprolinuria and associated conditions in Andhra Pradesh, contributing valuable epidemiological data.
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