CATIONIC AMINO ACID TRANSPORTER 2 (CAT-2) DEFECT

Question 1

What is  CATIONIC AMINO ACID TRANSPORTER 2 (CAT-2) DEFECT?

Accepted Answer

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]

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 601872

Question 3

Which enzymes are involved?

Accepted Answer

Cationic amino acid transporter 2

Disease	CATIONIC AMINO ACID TRANSPORTER 2 (CAT-2) DEFECT
OMIM	601872 OMIM = Online Mendelian Inheritance of Men
Gene locus	8p22 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Solute carrier family 7 (cationic amino acid transporter, y+ system), member 2
ICD
Summary	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]
Laboratory findings	Arginine inc (urine) Guanidinoacetic acid / Guanidinoacetate inc (urine) Arginine inc (blood) L-Lysine inc (urine) L-Lysine inc (plasma) Ornithine inc (plasma) Ornithine inc (urine)
Symptoms	onset, neonatal