IMINOGLYCINURIA

Question 1

What is  IMINOGLYCINURIA?

Accepted Answer

rare
autosomal recessive
mutation in the SLC6A19 gene
deficiency of membrane transport of glycine, proline and hydroxyproline renal imminoglycinuria normal in the newborn period

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Iminoglycinurie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 242600

Question 4

Which enzymes are involved?

Accepted Answer

amino acid transporter

Disease	IMINOGLYCINURIA
Synonym	IMINOGLYCINURIA, FAMILIAL
OMIM	242600 OMIM = Online Mendelian Inheritance of Men
Orphanet	42062
Protein (UniProt)	amino acid transporter
Gene locus	2p21.31, 5p15.33, 5q33.1
ICD	E72.0
Summary	rare autosomal recessive mutation in the SLC6A19 gene deficiency of membrane transport of glycine, proline and hydroxyproline renal imminoglycinuria normal in the newborn period
Laboratory findings	Hydroxyproline inc (urine) Proline inc (urine) Glycine inc (urine)
Symptoms	no clinical symptoms (probably) aminoaciduria mental retardation onset, childhood onset, infancy urolithiasis, nephrolithiasis, kidney stones