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Sialin Unknown Unknown Sodium- dependent phosphate transport protein 4 Chitotriosidase- 1 Beta- hexosaminidase subunit alpha Chitotriosidase- 1 N-acetyl-D- glucosamine kinase Putative N- acetylglucosamine- 6-phosphate deacetylase Glucosamine 6-phosphate N- acetyltransferase Glucosamine- 6-phosphate isomerase 1 Glutamine-- fructose-6- phosphate aminotransferase Phosphoacetylglucosamine mutase UDP-N- acetylhexosamine pyrophosphorylase N- acylglucosamine 2-epimerase Bifunctional UDP-N-acetyl glucosamine 2-epimerase / N- acetylmannosamine kinase Hexokinase-1 Hexokinase-1 Sialic acid synthase N- acetylneuraminate lyase Bifunctional UDP-N-acetyl glucosamine 2-epimerase / N- acetylmannosamine kinase Sialic acid synthase N- acylneuraminate- 9-phosphatase N- acylneuraminate cytidylyltransferase N-Acetylneuraminic acid N-Acetylneuraminic acid N-Acetyl-D-glucosamine N-Acetyl-D-glucosamine N-Acetyl-D-glucosamine N-Acetylneuraminic acid Chitin Chitobiose H2O ATP ADP N-Acetyl-D-Glucosamine 6-Phosphate H2O Glucosamine 6-phosphate Acetic acid Acetyl-CoA CoA H2O Fructose 6-phosphate NH3 L-Glutamine L-Glutamic acid N-Acetyl-glucosamine 1-phosphate Uridine triphosphate Uridine diphosphate-N- acetylglucosamine PPi N-Acetylmannosamine H2O Uridine 5'-diphosphate D-Fructose ATP ADP Glucosamine ATP ADP Phosphoenolpyruvic acid H2O Pi Pyruvic acid ATP N-Acetyl-D-mannosamine 6-phosphate ADP Phosphoenolpyruvic acid H2O N-Acetylneuraminate 9-phosphate Pi H2O Pi Cytidine triphosphate Cytidine monophosphate N-acetylneuraminic acid PPi Magnesium Magnesium Extracellular Space Intracellular Space Lysosome Lysosome Symptoms of the disorder include seizures, intellectual disability, developmental delay, nystagmus, hypotonia, ataxia, spasticity, and athetosis.
Lysosome Lysosome SLC17A5 Unknown Unknown SLC17A3 CHIT1 HEXA CHIT1 NAGK AMDHD2 GNPNAT1 GNPDA1 GFPT1 PGM3 UAP1 RENBP GNE HK1 HK1 NANS NPL GNE NANS NANP CMAS N- Acetylneuraminic acid N- Acetylneuraminic acid N-Acetyl-D- glucosamine N-Acetyl-D- glucosamine N-Acetyl-D- glucosamine N- Acetylneuraminic acid Chitin Chitobiose Water Adenosine triphosphate Adenosine diphosphate N-Acetyl-D- Glucosamine 6-Phosphate Water Glucosamine 6-phosphate Acetic acid Acetyl-CoA Coenzyme A Water Fructose 6-phosphate Ammonia L-Glutamine L-Glutamic acid N-Acetyl- glucosamine 1-phosphate Uridine triphosphate Uridine diphosphate- N- acetylglucosamine Pyrophosphate N- Acetylmannosamine Water Uridine 5'-diphosphate D-Fructose Adenosine triphosphate Adenosine diphosphate Glucosamine Adenosine triphosphate Adenosine diphosphate Phosphoenolpyruvic acid Water Phosphate Pyruvic acid Adenosine triphosphate N-Acetyl-D- mannosamine 6-phosphate Adenosine diphosphate Phosphoenolpyruvic acid Water N- Acetylneuraminate 9-phosphate Phosphate Water Phosphate Cytidine triphosphate Cytidine monophosphate N- acetylneuraminic acid Pyrophosphate
SLC17A5 SLC17A3 CHIT1 HEXA CHIT1 NAGK AMDHD2 GNPNAT1 GNPDA1 GFPT1 PGM3 UAP1 RENBP GNE HK1 HK1 NANS NPL GNE NANS NANP CMAS Neu5Ac Neu5Ac GlcNAc GlcNAc GlcNAc Neu5Ac Chitin ChtBos H2O ATP ADP NAcG6P H2O G6P Acoh Ac-CoA CoA H2O Fru6P NH3 Gln Glu NGluA1P UTP UDP-GN PPi Mannac H2O UDP Fru ATP ADP Cosamin ATP ADP Pep H2O Pi Pyr ATP NAcM6P ADP Pep H2O NA9p Pi H2O Pi CTP CMPNAc PPi Mg2+ Mg2+ Extracellular Space Intracellular Space Lysosome Lysosome Symptoms of the disorder include seizures, intellectual disability, developmental delay, nystagmus, hypotonia, ataxia, spasticity, and athetosis.
Lysosome Lysosome SLC17A5 SLC17A3 CHIT1 HEXA CHIT1 NAGK AMDHD2 GNPNAT1 GNPDA1 GFPT1 PGM3 UAP1 RENBP GNE HK1 HK1 NANS NPL GNE NANS NANP CMAS Neu5Ac Neu5Ac GlcNAc GlcNAc GlcNAc Neu5Ac Chitin ChtBos H2O ATP ADP NAcG6P H2O G6P Acoh Ac-CoA CoA H2O Fru6P NH3 Gln Glu NGluA1P UTP UDP-GN Ppi Mannac H2O UDP Fru ATP ADP Cosamin ATP ADP Pep H2O Pi Pyr ATP NAcM6P ADP Pep H2O NA9p Pi H2O Pi CTP CMPNAc Ppi