<unk>  <unk>  is a lysosomal<unk><unk> .<unk>  occurs when<unk> <unk>  is unable to be transported out of the lysosomal membrane and instead accumulates in the tissue, causing<unk><unk> <unk>  to be excreted in the urine. Mutations in the SLC17A5 (solute carrier family 17 (anion/sugar transporter), member 50) gene cause all forms of<unk> <unk><unk><unk> . The SLC17A5 gene is located on the long (q) arm of chromosome 6 between positions 14 and 15. This gene provides instructions for producing a protein called<unk>  that is located mainly on the membranes of lysosomes, compartments in the cell that digest and recycle materials.<unk>  is the most severe form of the<unk> <unk><unk><unk> s. Babies with this condition have severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may have unusual facial features that are often described as "coarse," seizures, bone malformations, enlarged liver and spleen (hepatosplenomegaly), and an enlarged heart (cardiomegaly).<unk>  is a rare autosomal recessive disorder and affects 1 in 528,000 live births worldwide.
Infantile free sialic acid storage disease
GM1 gangliosidoses
GM2 gangliosidoses
Neonatal adrenoleukodystrophy
Infantile neuronal ceroid lipofuscinosis
Congenital disorder of glycosylation type IIc
Foster Kennedy syndrome
Congenital disorder of glycosylation