Lysinuric protein intolerance in a 5-month-old girl
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, name...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2016-01-01
|
| Series: | Medical Journal of Dr. D.Y. Patil University |
| Subjects: | |
| Online Access: | http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2016;volume=9;issue=3;spage=391;epage=392;aulast=Deogaonkar |
| _version_ | 1818490552821219328 |
|---|---|
| author | Viplav Narayan Deogaonkar Ira Shah |
| author_facet | Viplav Narayan Deogaonkar Ira Shah |
| author_sort | Viplav Narayan Deogaonkar |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-10T17:18:34Z |
| format | Article |
| id | doaj.art-08cbd0598b7d49afb4ffa861557e10e4 |
| institution | Directory Open Access Journal |
| issn | 0975-2870 |
| language | English |
| last_indexed | 2024-12-10T17:18:34Z |
| publishDate | 2016-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Medical Journal of Dr. D.Y. Patil University |
| spelling | doaj.art-08cbd0598b7d49afb4ffa861557e10e42022-12-22T01:40:03ZengWolters Kluwer Medknow PublicationsMedical Journal of Dr. D.Y. Patil University0975-28702016-01-019339139210.4103/0975-2870.182517Lysinuric protein intolerance in a 5-month-old girlViplav Narayan DeogaonkarIra ShahLysinuric 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.http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2016;volume=9;issue=3;spage=391;epage=392;aulast=DeogaonkarAminoaciduriaautosomal recessive defectinability to digest amino acidsmultisystemic affliction |
| spellingShingle | Viplav Narayan Deogaonkar Ira Shah Lysinuric protein intolerance in a 5-month-old girl Medical Journal of Dr. D.Y. Patil University Aminoaciduria autosomal recessive defect inability to digest amino acids multisystemic affliction |
| title | Lysinuric protein intolerance in a 5-month-old girl |
| title_full | Lysinuric protein intolerance in a 5-month-old girl |
| title_fullStr | Lysinuric protein intolerance in a 5-month-old girl |
| title_full_unstemmed | Lysinuric protein intolerance in a 5-month-old girl |
| title_short | Lysinuric protein intolerance in a 5-month-old girl |
| title_sort | lysinuric protein intolerance in a 5 month old girl |
| topic | Aminoaciduria autosomal recessive defect inability to digest amino acids multisystemic affliction |
| url | http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2016;volume=9;issue=3;spage=391;epage=392;aulast=Deogaonkar |
| work_keys_str_mv | AT viplavnarayandeogaonkar lysinuricproteinintoleranceina5montholdgirl AT irashah lysinuricproteinintoleranceina5montholdgirl |