Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant
نویسندگان
چکیده
منابع مشابه
Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency.
OBJECTIVE To identify patients responsive to tetrahydrobiopterin (BH4) in a sample of Brazilians with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency (HPA-PAH). METHODS Interventional study, convenience sampling. The inclusion criteria were: diagnosis of HPA-PAH; age ≥ 7 years; phenylalanine-restricted diet and phenylalanine (Phe) levels ≥ 6 mg/dL in all blood tests 1 year b...
متن کاملMolecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Mutations in the phenylalanine hydroxylase (PAH) gene result in phenylketonuria (PKU). Tetrahydrobiopterin (BH(4))-responsive hyperphenylalaninemia has been recently described as a variant of PAH deficiency caused by specific mutations in the PAH gene. It has been suggested that BH(4)-responsiveness may be predicted from the corresponding genotypes. Data from BH(4) loading tests indicated an in...
متن کاملSix cases of citrin deficiency in Korea.
Citrin deficiency resulting from mutations of the SLC25A13 gene is associated with two major clinical phenotypes; neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type 2 citrullinemia (CTLN2). In Korea, 6 cases of citrin deficiency were diagnosed based on biochemical and molecular findings. Four NICCD patients (2 boys and 2 girls) presented high citrulline l...
متن کاملGenotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center.
Citrin is a liver-type aspartate/glutamate carrier (AGC) encoded by the gene SLC25A13. Two phenotypes for human citrin deficiency have been described, namely the adult-onset citrullinemia type II (CTLN2) and the neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). However, citrin deficiency currently remains a perplexing and poorly recognized disorder. In particular, descripti...
متن کاملIntrahepatic Cholestasis Secondary to Citrin Deficiency
Citrin deficiency (neonatal-onset type II citrullinemia), is an autosomal recessive metabolic disorder, caused by a mutation of the SLC25A13 gene. The defective transport between the mitochondria and the cytosol, leads to insufficient substrate for argininosuccinate synthetase (ASS) and secondary functional deficiency of ASS activity [1]. Infants with citrin deficiency, have transient intrahepa...
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ژورنال
عنوان ژورنال: Chinese Medical Journal
سال: 2015
ISSN: 0366-6999
DOI: 10.4103/0366-6999.168084