Year : 2016  |  Volume : 9  |  Issue : 3  |  Page : 391-392

Lysinuric protein intolerance in a 5-month-old girl

Pediatric Liver Clinic, B J Wadia Hospital for Children, Mumbai, Maharashtra, India

Correspondence Address:
Ira Shah
1/B Saguna, 271/B St Francis Road, Vile Parle (W), Mumbai, 400056
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0975-2870.182517

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Lysinuric protein intolerance (LPI), also known as cationic aminoaciduria, hyperdibasic aminoaciduria type 2, or familial protein intolerance, is an autosomal recessive defect of diamino acid transport. LPI is characterized by the inability of the body to digest and utilize certain amino acids, namely lysine, arginine, and ornithine. As a result, there is an increased excretion of these amino acids, which in turn affects the liver, the gastrointestinal tract, lungs, immune system, spleen, and organs producing blood. We report a 5-month-old girl born of third degree consanguineous marriage who presented with hepatosplenomegaly with sepsis and worsening jaundice due to LPI.

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