Lysinuric protein intolerance presenting with recurrent hyperammonemic encephalopathy
Background Lysinuric protein intolerance is an inherited disorder of transport of cationic amino acids, causing amino aciduria. Case characteristics A 3-year-old boy with 12 month history of episodic change in behavior (decreased sleep, poor interaction), stunted growth and hyperammonemia. Outcome Genetic analysis revealed a homozygous mutation, c.158C>T (p.Ser53Leu) in exon 1 of SLC7A7 gene. With appropriate management of hyperammonemia episodes, his neurodevelopmental outcome is normal. Message Lysinusic protein intolerance is a potentially treatable disorder and should not to be missed..
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
2016 |
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| Erschienen: |
2016 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:53 |
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| Enthalten in: |
Indian pediatrics - 53(2016), 8 vom: Aug., Seite 732-734 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Bijarnia-Mahay, Sunita [VerfasserIn] |
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| Links: |
Volltext [lizenzpflichtig] |
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| BKL: | |
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| Themen: |
Behavioral problems |
| Anmerkungen: |
© Indian Academy of Pediatrics 2016 |
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| doi: |
10.1007/s13312-016-0920-2 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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OLC2028652780 |
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| 520 | |a Background Lysinuric protein intolerance is an inherited disorder of transport of cationic amino acids, causing amino aciduria. Case characteristics A 3-year-old boy with 12 month history of episodic change in behavior (decreased sleep, poor interaction), stunted growth and hyperammonemia. Outcome Genetic analysis revealed a homozygous mutation, c.158C>T (p.Ser53Leu) in exon 1 of SLC7A7 gene. With appropriate management of hyperammonemia episodes, his neurodevelopmental outcome is normal. Message Lysinusic protein intolerance is a potentially treatable disorder and should not to be missed. | ||
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| 700 | 1 | |a Häberle, Johannes |4 aut | |
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