1.
Genet Couns
; 26(4): 409-13, 2015.
Artículo
en Inglés
| MEDLINE
| ID: mdl-26852511
RESUMEN
We report the first Turkish patient with citrin deficiency detected incidentally by phenylketonuria screening. Mild cholestasis, increased α-fetoprotein level, aminoacidemia including citrulline and coagulation disorder suggested citrin deficiency. Screening the SLC25A13 gene revealed compound heterozygosity harboring a novel mutation, c.851-854delGTAT (p.M285Pfs*2)/ p.I290T (c.869T>C). Progression to type II citrullinemia was considered due to hyperammonemia episodes resulting from high carbohydrate/low protein diet. High protein/low carbohydrate diet resulted in cessation of hyperammonemia episodes, reversal of hepatic dysfunction and steatohepatitis. Our report illustrates the importance of awareness on citrin deficiency.
Asunto(s)
Proteínas de Unión al Calcio/deficiencia , Hallazgos Incidentales , Proteínas de Transporte de Membrana Mitocondrial/genética , Transportadores de Anión Orgánico/deficiencia , Fenilcetonurias/genética , Proteínas de Unión al Calcio/genética , Preescolar , Humanos , Masculino , Mutación/genética , Transportadores de Anión Orgánico/genética
2.
Genet Couns
; 26(4): 463-6, 2015.
Artículo
en Inglés
| MEDLINE
| ID: mdl-26852520