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Summary
CATIONIC AMINO ACID TRANSPORTER 2 (CAT-2) DEFECT
601872
OMIM = Online Medalian Inheritance of Men
8p22

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
very rare
autosomal recessive
variants in the SLC7A2 gene

A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening [Yahyaoui R et al. 2019]
symptoms
onset, neonatal
laboratory finding
Arginine +€mol/lblood
Arginine mmol/mol Creaurine
Ornithine mmol/mol Creaurine
L-Lysine mmol/mol Creaurine
Ornithine +€mol/lplasma
L-Lysine +€mol/lplasma
Guanidinoacetic acid / Guanidinoacetate mmol/mol Creaurine
Literature
Quinonez SC,et al.Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyteMol Genet Metab Rep13345-3492014