Genetic Epilepsy

Gene: SLC6A19

Green List (high evidence)

Bi-allelic variants associated with Hartnup disorder, which is characterised by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra, cerebellar ataxia, and psychosis. Seizures are part of the phenotype.

Hyperglycinuria/iminoglycinuria: The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria is a benign inborn error of amino acid transport, and is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG)
Sources: Expert list

Created: 6 Feb 2021, 1:59 a.m. | Last Modified: 16 May 2024, 5:45 a.m.

Panel Version: 0.2723

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hartnup disorder, MIM# 234500