1.
Genet Couns
; 26(4): 409-13, 2015.
Article
in English
| MEDLINE
| ID: mdl-26852511
ABSTRACT
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.
Subject(s)
Calcium-Binding Proteins/deficiency , Incidental Findings , Mitochondrial Membrane Transport Proteins/genetics , Organic Anion Transporters/deficiency , Phenylketonurias/genetics , Calcium-Binding Proteins/genetics , Child, Preschool , Humans , Male , Mutation/genetics , Organic Anion Transporters/genetics
2.
Genet Couns
; 26(4): 463-6, 2015.
Article
in English
| MEDLINE
| ID: mdl-26852520