ArticleWorld journal of clinical pediatrics2022
Children with lysinuric protein intolerance: Experience from a lower middle income country.
Article in World journal of clinical pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 8 citations in OpenAlex.
- Lysinuric Protein Intolerance (LPI) Presenting with Macrocephaly, Hepatosplenomegaly and Myelosuppression.Indian journal of pediatrics · 2025Article
- Whole lung lavage and GM-CSF use for pulmonary alveolar proteinosis in an infant with lysinuric protein intolerance: a case report.Italian journal of pediatrics · 2024Article
- Neurological and endocrinological involvement in neonatal lupus erythematosus: a retrospective study at a tertiary hospital in Eastern China.Clinical rheumatology · 2023Article
- Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance.Disease models & mechanisms · 2023Article
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Authors and funding
2 authors at 1 institution in 1 country.
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Abstract
backgroundLysinuric protein intolerance (LPI) is an inborn error of metabolism consequential to recessive mutations in the
aimTo determine biochemical and clinical presentation of cases with biochemical picture suggestive of LPI in Pakistani children.
methodsThe study was conducted at the Biochemical Genetic Lab, Department of Pathology and Laboratory Medicine, AKU Plasma, and urine amino acid quantification data from January 2013 to October 2018 was included in this study. The amino acids were analyzed by high performance liquid chromatography. Prestructured requisition forms were used to obtain the clinicopathological data. Statistical analysis was done by Microsoft Excel 2017.
resultsA total of 6 patients were recognized. All the patients were male (100%). The mean age was 24 mo ± 10 d. All the patients had low plasma concentration of lysine, ornithine and arginine, whereas increased levels of lysine, ornithine and arginine in urine were observed in 2 patients. History of consanguineous marriage was present in all patients (100%). The most observed clinical symptom was feeding difficulty followed by failure to thrive (83.3%) and developmental delay (66.6%). Hepatomegaly was present in all patients (100%). No mutation analysis was done.
conclusionThis study portrays the biochemical and clinical spectrum of LPI in Pakistan. Although clinical manifestations appeared in the first 2 years of life, most of them suffered a delay in undergoing diagnostic workup.
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