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PW127299

Pw127299 View Pathway
disease

Adenine Phosphoribosyltransferase Deficiency (APRT)

Homo sapiens
Adenine phosphoribosyltransferase deficiency, which is also known as APRTD or APRT deficiency, is a rare inherited inborn error of metabolism (IEM) leading to the recurrent formation of kidney stones. It is an autosomal recessive disorder associated with a mutation in the enzyme adenine phosphoribosyltransferase (APRT). APRT is involved in the nucleotide salvage pathway, which provides an alternative, and energetically more efficient route to nucleotide biosynthesis in humans and most other animals. A defect in this enzyme can lead to the accumulation of the insoluble purine known as 2,8-dihydroxyadenine. In particular, when APRT has reduced or nonexistent activity, adenine accumulates which is then degraded by xanthine dehydrogenase to 2,8-dihydroxyadenine (DHA). 2,8-Dihydroxyadenine is a derivative of adenine which accumulates in 2,8 dihydroxyadenine urolithiasis (kidney stones). Kidney and urinary tract stones can obstruct the urinary tract, resulting in pain and difficulty urinating. If left untreated, the condition can eventually produce kidney failure. APRTD was first diagnosed in 1976. There are two categories of APRTD: type I involves a complete loss of the APRT function while type II involves a partial loss and is mostly found in Japan. APRT deficiency is estimated to affect 1 in 27 000 people in Japan. APRTD is rarer in Europe, where it affects 1 in 50 000 to 100 000 people. A diagnosis of APRTD can be made by analyzing kidney stones or measuring DHA concentrations in urine. APRTD is treatable with regular doses of allopurinol, which inhibits xanthine dehydrogenase activity. APRTD can also be treated with a low-purine diet and a high fluid intake.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ray Kruger

Created On: December 04, 2022 at 00:15

Last Updated: December 04, 2022 at 00:15

PW121856

Pw121856 View Pathway
disease

Adenine Phosphoribosyltransferase Deficiency (APRT)

Mus musculus
Adenine phosphoribosyltransferase deficiency, which is also known as APRTD or APRT deficiency, is a rare inherited inborn error of metabolism (IEM) leading to the recurrent formation of kidney stones. It is an autosomal recessive disorder associated with a mutation in the enzyme adenine phosphoribosyltransferase (APRT). APRT is involved in the nucleotide salvage pathway, which provides an alternative, and energetically more efficient route to nucleotide biosynthesis in humans and most other animals. A defect in this enzyme can lead to the accumulation of the insoluble purine known as 2,8-dihydroxyadenine. In particular, when APRT has reduced or nonexistent activity, adenine accumulates which is then degraded by xanthine dehydrogenase to 2,8-dihydroxyadenine (DHA). 2,8-Dihydroxyadenine is a derivative of adenine which accumulates in 2,8 dihydroxyadenine urolithiasis (kidney stones). Kidney and urinary tract stones can obstruct the urinary tract, resulting in pain and difficulty urinating. If left untreated, the condition can eventually produce kidney failure. APRTD was first diagnosed in 1976. There are two categories of APRTD: type I involves a complete loss of the APRT function while type II involves a partial loss and is mostly found in Japan. APRT deficiency is estimated to affect 1 in 27 000 people in Japan. APRTD is rarer in Europe, where it affects 1 in 50 000 to 100 000 people. A diagnosis of APRTD can be made by analyzing kidney stones or measuring DHA concentrations in urine. APRTD is treatable with regular doses of allopurinol, which inhibits xanthine dehydrogenase activity. APRTD can also be treated with a low-purine diet and a high fluid intake.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ana Marcu

Created On: September 10, 2018 at 15:50

Last Updated: September 10, 2018 at 15:50

PW144304

Pw144304 View Pathway
drug action

Adenine Drug Metabolism Action Pathway

Homo sapiens
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ray Kruger

Created On: October 07, 2023 at 13:21

Last Updated: October 07, 2023 at 13:21

PW002072

Pw002072 View Pathway
metabolic

Adenine and Adenosine Salvage III

Escherichia coli
Adenosine is first incorporated into the cytosol through either a nupG or a nupC transporter. Once in the cytosol, adenosine is degraded into adenine by reacting with a water and a adenosine nucleosidase, releasing a D-ribofuranose and a adenine. The adenine then reacts with a PRPP through a adenine phosphoribosyltransferase resulting in the release of a pyrophosphate and an AMP . The AMP in turn reacts with a water molecule through a AMP nucleosidase resulting in the release of a D-ribofuranose 5-phosphate and a adenine.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: miguel ramirez

Created On: October 09, 2015 at 16:59

Last Updated: October 09, 2015 at 16:59

PW002071

Pw002071 View Pathway
metabolic

Adenine and Adenosine Salvage II

Escherichia coli
The salvage of adenine begins with adenine being transporter into the cytosol through a adeP hydrogen symporter. Once in the cytosol adenine is degraded by reacting with a ribose-1-phosphate through an adenosine phosphorylase resulting in the release of a phosphate and adenosine. Adenosine is then deaminated by reacting with water, a hydrogen ion and an adenosine deaminase resulting in the release of an ammonium and a inosine . Inosine can then be phosphorylated through an ATP driven inosine kinase resulting in the release of an ADP, a hydrogen ion and a IMP
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: miguel ramirez

Created On: October 09, 2015 at 16:47

Last Updated: October 09, 2015 at 16:47

PW499028

Pw499028 View Pathway
metabolic

Adenine and Adenosine Salvage I

Bacteroides ovatus ATCC 8483
The salvage of adenine begins with adenine being transporter into the cytosol through a adeP hydrogen symporter. Once in the cytosol adenine is degraded by reacting with a ribose-1-phosphate through an adenosine phosphorylase resulting in the release of a phosphate and adenosine. Adenosine is then deaminated by reacting with water, a hydrogen ion and an adenosine deaminase resulting in the release of an ammonium and a inosine . Inosine then reacts with a phosphate through a inosine phosphorylase resulting in the release of a ribose 1-phosphate and a hypoxanthine. Hypoxanthine reacts with a PRPP through a hypoxanthine phosphoribosyltransferase resulting in the release of a pyrophosphate and a IMP molecule.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Julia Wakoli

Created On: February 04, 2025 at 16:57

Last Updated: February 04, 2025 at 16:57

PW499042

Pw499042 View Pathway
metabolic

Adenine and Adenosine Salvage I

Bacteroides pyogenes DSM 20611 = JCM 6294
The salvage of adenine begins with adenine being transporter into the cytosol through a adeP hydrogen symporter. Once in the cytosol adenine is degraded by reacting with a ribose-1-phosphate through an adenosine phosphorylase resulting in the release of a phosphate and adenosine. Adenosine is then deaminated by reacting with water, a hydrogen ion and an adenosine deaminase resulting in the release of an ammonium and a inosine . Inosine then reacts with a phosphate through a inosine phosphorylase resulting in the release of a ribose 1-phosphate and a hypoxanthine. Hypoxanthine reacts with a PRPP through a hypoxanthine phosphoribosyltransferase resulting in the release of a pyrophosphate and a IMP molecule.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Julia Wakoli

Created On: February 04, 2025 at 17:04

Last Updated: February 04, 2025 at 17:04

PW500767

Pw500767 View Pathway
metabolic

Adenine and Adenosine Salvage I

Neisseria cinerea ATCC 14685
The salvage of adenine begins with adenine being transporter into the cytosol through a adeP hydrogen symporter. Once in the cytosol adenine is degraded by reacting with a ribose-1-phosphate through an adenosine phosphorylase resulting in the release of a phosphate and adenosine. Adenosine is then deaminated by reacting with water, a hydrogen ion and an adenosine deaminase resulting in the release of an ammonium and a inosine . Inosine then reacts with a phosphate through a inosine phosphorylase resulting in the release of a ribose 1-phosphate and a hypoxanthine. Hypoxanthine reacts with a PRPP through a hypoxanthine phosphoribosyltransferase resulting in the release of a pyrophosphate and a IMP molecule.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Julia Wakoli

Created On: February 05, 2025 at 07:09

Last Updated: February 05, 2025 at 07:09

PW495742

Pw495742 View Pathway
metabolic

Adenine and Adenosine Salvage I

Escherichia coli (strain MS 21-1)
The salvage of adenine begins with adenine being transporter into the cytosol through a adeP hydrogen symporter. Once in the cytosol adenine is degraded by reacting with a ribose-1-phosphate through an adenosine phosphorylase resulting in the release of a phosphate and adenosine. Adenosine is then deaminated by reacting with water, a hydrogen ion and an adenosine deaminase resulting in the release of an ammonium and a inosine . Inosine then reacts with a phosphate through a inosine phosphorylase resulting in the release of a ribose 1-phosphate and a hypoxanthine. Hypoxanthine reacts with a PRPP through a hypoxanthine phosphoribosyltransferase resulting in the release of a pyrophosphate and a IMP molecule.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Julia Wakoli

Created On: February 03, 2025 at 14:15

Last Updated: February 03, 2025 at 14:15

PW498948

Pw498948 View Pathway
metabolic

Adenine and Adenosine Salvage I

Bacteroides oleiciplenus YIT 12058
The salvage of adenine begins with adenine being transporter into the cytosol through a adeP hydrogen symporter. Once in the cytosol adenine is degraded by reacting with a ribose-1-phosphate through an adenosine phosphorylase resulting in the release of a phosphate and adenosine. Adenosine is then deaminated by reacting with water, a hydrogen ion and an adenosine deaminase resulting in the release of an ammonium and a inosine . Inosine then reacts with a phosphate through a inosine phosphorylase resulting in the release of a ribose 1-phosphate and a hypoxanthine. Hypoxanthine reacts with a PRPP through a hypoxanthine phosphoribosyltransferase resulting in the release of a pyrophosphate and a IMP molecule.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Julia Wakoli

Created On: February 04, 2025 at 16:29

Last Updated: February 04, 2025 at 16:29