HYPERGLYCINURIA | |
AMINOGLYCINURIA TYPE 2 | |
138500
OMIM = Online Mendelian Inheritance of Men | |
62062 | |
Proton-coupled amino acid transporter 2 | |
5q33.1 |
|
rare autosomal dominant mutation in the SLC36A2 gene | |
Laboratory findings | Glycine inc (urine) |
Symptoms | no clinical symptoms (probably) onset, childhood onset, infancy |