Akutní hyperamonémická encefalopatie u novorozeného devčátka způsobená mutací (de novo) ornitin-transcarbamylásového genu

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209805%3A_____%2F04%3A00013649" target="_blank" >RIV/00209805:_____/04:00013649 - isvavai.cz</a>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene

Popis výsledku v původním jazyce

A full-term female offspring of a first and uneventful pregnancy presented at 60 h of life with irritability, tachypnea and respiratory alkalosis progressing to deep coma with clinically dominant circulatory failure, tachycardia and hypotension. Diagnosis of ornithine transcarbamylase (OTC) deficiency was made on the basis of hyperammonaemia, hypocitrullinaemia and extreme hyperexcretion of orotic acid. The baby was treated with peritoneal dialysis, arginine hydrochloride and adequate energy supply. DNAanalysis revealed an as of yet unidentified missense mutation in the 6th exon of the OTC gene, resulting in a change of lysine to glutamine at position 210 (K210Q). Her parents were not found to carry this mutation, implying that this mutation may haveoccurred either de novo in the patient or in a parental germ cell. Conclusion: An acute neonatal form of OTC deficiency should be considered in the differential diagnosis of coma in female newborns.

Název v anglickém jazyce

Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene

Popis výsledku anglicky

A full-term female offspring of a first and uneventful pregnancy presented at 60 h of life with irritability, tachypnea and respiratory alkalosis progressing to deep coma with clinically dominant circulatory failure, tachycardia and hypotension. Diagnosis of ornithine transcarbamylase (OTC) deficiency was made on the basis of hyperammonaemia, hypocitrullinaemia and extreme hyperexcretion of orotic acid. The baby was treated with peritoneal dialysis, arginine hydrochloride and adequate energy supply. DNAanalysis revealed an as of yet unidentified missense mutation in the 6th exon of the OTC gene, resulting in a change of lysine to glutamine at position 210 (K210Q). Her parents were not found to carry this mutation, implying that this mutation may haveoccurred either de novo in the patient or in a parental germ cell. Conclusion: An acute neonatal form of OTC deficiency should be considered in the differential diagnosis of coma in female newborns.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FG - Pediatrie

OECD FORD obor

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Projekt

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Návaznosti

Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2004

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Acta paediatrica

ISSN

0001-656X

e-ISSN

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Svazek periodika

93

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

SE - Švédské království

Počet stran výsledku

2

Strana od-do

710-711

Kód UT WoS článku

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EID výsledku v databázi Scopus

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