PathWhiz ID | Pathway | Meta Data |
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PW000081View Pathway |
disease
Purine Nucleoside Phosphorylase DeficiencyHomo sapiens
Purine nucleoside phosphorylase deficiency (Nucleoside phosphorylase; Immunodeficiency) is a rare disease causing severe immunodeficiency. The disease is caused by a mutation in the enzyme purine nucleoside phosphorylase. The enzyme is necessary for purine breakdown. The mutation causes deoxy-GTP (dGTP) to accumulate which causes T-cell toxicity. The disease results in accumulation of guanosine, inosine, and uric acid in serum; and orotic acid in some cases in the urine. Symptoms include anemia, ataxia, hypotonia, lymphopenia, mental retardation, and tremor or twitching.
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Creator: WishartLab Created On: August 01, 2013 at 15:52 Last Updated: August 01, 2013 at 15:52 |
PW000082View Pathway |
disease
AICA-RibosiduriaHomo sapiens
AICA-ribosiduria is a metabolic disease caused by a defect in final steps of purine de novo biosynthesis. This defect is caused by a mutation in the ATIC which codes for bifunctional purine biosynthesis protein PURH. A deficiency in this enzyme results in accumulation of 5-aminoimidazole-4-carboxamide in urine. Symptoms include mental retardation, epilepsy, dysmorphic features, and congenital blindness.
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Creator: WishartLab Created On: August 01, 2013 at 15:52 Last Updated: August 01, 2013 at 15:52 |
PW000083View Pathway |
disease
Prolidase Deficiency (PD)Homo sapiens
Prolidase deficiency is an autosomal recessive disorder. The enzyme prolidase cleaves iminodipeptides with N-terminal proline or hydroxyproline. Collagen has high levels of iminoacids therefore, these dipeptidases are important for collagen metabolism. A defect in this enzyme causes accumulation of imidodipeptides in urine. Symptoms include skin lesions, anemia, dysmorphism, mental retardation, and ptosis (drooping eyelid).
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Creator: WishartLab Created On: August 01, 2013 at 15:52 Last Updated: August 01, 2013 at 15:52 |
PW000084View Pathway |
disease
Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)Homo sapiens
Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency, Creatine Deficiency Syndrome, Creatine Deficiency due to AGAT Deficiency, GATM Deficiency) is caused by mutation in the GATM gene, which codes for L-arginine:glycine amidinotransferase, which catalyzes the reaction between L-arginine and glycine, transferring an amidino group from L-arginine to glycine, producing L-ornithine and guanidinoacetate, a precursor of creatine. A defect in this enzyme causes a decrease in concentration of creatine and guanidinoacetate in plasma and urine. Symptoms include mental and motor retardation, seizures, and delayed or abnormal speech development.
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Creator: WishartLab Created On: August 01, 2013 at 15:52 Last Updated: August 01, 2013 at 15:52 |
PW000085View Pathway |
disease
Hyperprolinemia Type IIHomo sapiens
Hyperprolinemia Type II (HPII), also known as 1-pyrroline-5-carboxylate dehydrogenase deficiency, is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the arginine and proline metabolism pathway. It is caused by a mutation in the ALDH4A1 gene (also called the P5CDH gene) that encodes the mitochondrial enzyme delta-1-pyrroline-5-carboxylate dehydrogenase. This enzyme is responsible for catalyzing the dehydrogenation of 1-pyrroline-5-carboxylic acid or L-glutamic gamma-semialdehyde into L-glutamic acid. If mutated, allows L-proline, 4-hydroxyproline and D-proline, compounds further upstream from these reactions, to accumulate. HPII is characterized by an accumulation of proline in the blood. Symptoms include hydroxyprolinuria and hyperglycinuria, and can include seizures and some amount of mental retardation. However, the disorder varies in severity and these symptoms may not be present in all individuals. There are no currently known treatments for HPII, and a reduced proline diet has not been shown to reduce symptoms. There are no current estimates for the frequency of this disorder.
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Creator: WishartLab Created On: August 01, 2013 at 15:52 Last Updated: August 01, 2013 at 15:52 |
PW000086View Pathway |
disease
Hyperprolinemia Type IHomo sapiens
Hyperprolinemia type I (HPI, proline oxidase deficiency) is caused by mutation in the proline dehydrogenase gene (PRODH), which codes for proline dehydrogenase (proline oxidase). This enzyme converts proline to delta-1-pyrroline-5-carboxylate. A defect in proline dehydrogenase causes accumulation of proline in plasma, and glycine, hydroxyproline, and proline in urine. Symptoms include mental retardation, renal cysts, and seizures.
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Creator: WishartLab Created On: August 01, 2013 at 15:52 Last Updated: August 01, 2013 at 15:52 |
PW000087View Pathway |
disease
Prolinemia Type IIHomo sapiens
Prolinemia Type II is caused by mutation in the pyrroline-5-carboxylate dehydrogenase gene (P5CDH) mitochondrial matrix NAD-dependent dehydrogenase. This dehydrogenase is a catalyst for converting pyrroline-5-carboxylate to glutamate in the proline degradation pathway. An enzyme defect causes accumulation of glycine, hydroxyproline and proline in the urine, ornithine in the serum and proline in plasma. Symptoms include mental retardation, acute and chronic renal failure, and seizures.
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Creator: WishartLab Created On: August 01, 2013 at 15:52 Last Updated: August 01, 2013 at 15:52 |
PW000088View Pathway |
disease
Guanidinoacetate Methyltransferase Deficiency (GAMT Deficiency)Homo sapiens
Guanidinoacetate Methyltransferase Deficiency (Creatine-Deficiency-Syndrome) is a rare autosomal recessive disease caused by a mutation in the GAMT gene which codes for guanidinoacetate N-methyltransferase. A deficiency in this enzyme results in accumulation of 3-methylglutaconic acid in urine; guanidoacetic acid in urine and serum. Decreased concentrations of creatine are found in serum and urine; and creatinine in plasma, spinal fluid, and urine. Symptoms, which present at birth, include failure to thrive, mental and motor retardation, hyoptonia, and seizures. Treatment includes arginine-restricted diet, sodium benzoate, and L-ornithine hydrochlorate.
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Creator: WishartLab Created On: August 01, 2013 at 15:52 Last Updated: August 01, 2013 at 15:52 |
PW000089View Pathway |
disease
Ornithine Aminotransferase Deficiency (OAT Deficiency)Homo sapiens
Ornithine aminotransferase deficiency (OAT deficiency, ornithine keto acid aminotransferase deficiency, OKT deficiency, ornithine-delta-aminotransferase deficiency, gyrate atrophy of the choroid and retina) is an autosomal recessive disorder of ornithine metabolism caused by a defective ornithine aminotransferase (OAT). OAT catalyzes the conversion of ornithine into proline which is a conditionally essential amino acid. This disease is characterized by a very large accumulation of ornithine in the blood. Symptoms of the disease include tunnel vision, night blindness, myopia, and progressive vision loss.
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Creator: WishartLab Created On: August 01, 2013 at 15:52 Last Updated: August 01, 2013 at 15:52 |
PW000090View Pathway |
disease
Aromatic L-Aminoacid Decarboxylase DeficiencyHomo sapiens
Aromatic L-Aminoacid Decarboxylase Deficiency (DOPA decarboxylase; DDC) is an autosomal recessive disease caused by a mutation in the DDC gene which codes for aromatic-L-aminoacid decarboxylase. A deficiency in this enzyme results in accumulation of 3-methoxytyrosine, 5-hydroxy-L-tryptophan, and L-Dopa in plasma, spinal fluid, and urine; 3-methoxytyramine and dopamine in urine. It also results in decreased concentrations of homovanillic acid, S-adenosylmethionine, and 5-hydroxytryptophol in spinal fluid; and epinephrine, norepinephrine in plasma. Symptoms include temperature instability, hypotonia, mental and motor retardation, and cerebral atrophy.
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Creator: WishartLab Created On: August 01, 2013 at 15:52 Last Updated: August 01, 2013 at 15:52 |