Citrullinemia
Definicija
Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency) (see these terms).
Pretraga
Pun naziv
Citrullinemia
Kratki naziv
-
Sinonimi
NULL
Orpha broj
187
Kategorija
Podkategorija
Naziv na stranom jeziku
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Prevalenca
Nepoznato
Nasleđivanje
Autosomal recessive
Period početka bolesti
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ICD 10
E72.2
OMIM
NULL
UMLS
C0175683
GARD
6114
MEDDRA
NULL
Tekstualni opis
-
Etiologija
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Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
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Genetsko savetovanje
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Terapija
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Klinička istraživanja
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