Children with lysinuric protein intolerance: Experience from a lower middle income country

Table 1 Summary of studies on lysinuric protein intolerance in South Asia

Country	No. of cases	Ref.	Presenting symptoms	PAA findings	UAA findings	↑NH3
India	4	Bijarnia-Mahay et al[14], 2016	Neurodevelopmental symptoms	↓Lysine; ↓Ornithine; ↓Arginine	↑Lysine; ↑Ornithine; ↑Arginine	Yes
		Moosa et al[15], 2005	Neurodegenerative symptoms	↓Lysine; ↓Ornithine; ↓Arginine	↑Lysine; ↑Ornithine; ↑Arginine	Yes
		Deogaonkar et al[16], 2016	Skin pustules, decreased feeding, sepsis	Normal	↑Lysine; ↑Arginine	Yes
		Nalini et al[17], 2015	Failure to thrive, recurrent chest infections	↓Lysine; ↓Ornithine; ↓Arginine	↑Lysine; ↑Ornithine; ↑Arginine	Yes
Pakistan	6	This study, 2022	Feeding problems, failure to thrive, developmental delay	↓Lysine; ↓Ornithine; ↓Arginine (in all patients)	↑Lysine; ↑Ornithine; ↑Arginine (in 2 patients)	Yes

↑: Above the reference range; ↓: Blow the reference range; PAA: Plasma amino acids; UAA: Urine amino acids.