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: |
E-Artikel |
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| Erscheinungsjahr: |
2016 |
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| Erschienen: |
2016 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:53 |
|---|---|
| Enthalten in: |
Indian pediatrics - 53(2016), 8 vom: 08. Aug., Seite 732-4 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Bijarnia-Mahay, Sunita [VerfasserIn] |
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| Themen: |
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| Anmerkungen: |
Date Completed 13.07.2017 Date Revised 18.09.2019 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM263814327 |
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| 500 | |a Citation Status MEDLINE | ||
| 520 | |a BACKGROUND: Lysinuric protein intolerance is an inherited disorder of transport of cationic amino acids, causing amino aciduria | ||
| 520 | |a CASE CHARACTERISTICS: A 3-year-old boy with 12 month history of episodic change in behavior (decreased sleep, poor interaction), stunted growth and hyperammonemia | ||
| 520 | |a 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 | ||
| 520 | |a MESSAGE: Lysinusic protein intolerance is a potentially treatable disorder and should not to be missed | ||
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| 700 | 1 | |a Haberle, Johannes |e verfasserin |4 aut | |
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