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HYPERGLYCINURIA

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