Alpha-aminoadipic semialdehyde synthase is an enzyme encoded by the AASS gene in humans and is involved in their major lysine degradation pathway. (wikipedia.org)
In humans, mutations in the AASS gene, and the corresponding alpha-aminoadipic semialdehyde synthase enzyme are associated with familial hyperlysinemia. (wikipedia.org)
Alpha-aminoadipic semialdehyde synthase is encoded for by the AASS gene, and mutations in this gene lead to hyperlysinemia. (wikipedia.org)
The AASS gene provides instructions for making an enzyme called aminoadipic semialdehyde synthase. (medlineplus.gov)
It is caused by mutations in AASS, which encodes α-aminoadipic semialdehyde synthase. (wikipedia.org)
The defect has been related to a mutation in the α-aminoadipic semialdehyde synthase (AASS) gene, which maps to gene locus 7q31.3. (mhmedical.com)
Alpha-aminoadipic semialdehyde dehydrogenase1
Allysine will be degraded to form aminoadipic acid through alpha-aminoadipic semialdehyde dehydrogenase. (smpdb.ca)
Deficiency5
Other names for this condition include: alpha-aminoadipic semialdehyde deficiency disease familial hyperlysinemia lysine alpha-ketoglutarate reductase deficiency disease saccharopine dehydrogenase deficiency disease saccharopinuria Hyperlysinemia is characterized by elevated plasma lysine levels that exceed 600 μmol/L and can reach up to 2000 μmol/L. These increased levels of lysine do not appear to have any negative effects on the body. (wikipedia.org)
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. (nih.gov)
Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. (ox.ac.uk)
A shortage (deficiency) of antiquitin leads to the buildup of α-aminoadipic semialdehyde, resulting in a disruption in the activity of pyridoxine, a form of vitamin B6 derived from food. (medlineplus.gov)
Case reports of PLP deficiency, verified not only clinically, but also by exome sequencing, are quite rare as well as the methods for studying molecular markers of alpha-aminoadipic semialdehyde and pipecolic acid in body fluids [5-7]. (jmedcasereportsimages.org)
Lysine9
The alpha-aminoadipic semialdehyde synthase protein catalyzes the first two steps in the mammalian L-lysine degradation via saccharopine pathway within the mitochondria, which is thought to be the main metabolic route for lysine degradation in upper eukaryotes. (wikipedia.org)
Aminoadipic semialdehyde synthase is involved in the breakdown of the amino acid lysine, a building block of most proteins. (medlineplus.gov)
Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities. (medlineplus.gov)
In one step in the breakdown of lysine to other molecules, antiquitin facilitates the conversion of α-aminoadipic semialdehyde to α-aminoadipate. (medlineplus.gov)
enzyme deficiencies of α-aminoadipic semialdehyde dehydrogenase and the saccharopine dehydrogenases have been associated with increased serum levels of l -lysine. (mhmedical.com)
L-Lysine and oxoglutaric acid will be combined to form saccharopine by facilitation of mitochondrial alpha-aminoadipic semialdehyde synthase, and then, mitochondrial alpha-aminoadipic semialdehyde synthase will further breaks saccharopine down to allysine and glutamic acid. (smpdb.ca)
Subsequent studies showed elevated pipecolic acid levels in the plasma and cerebrospinal fluid of affected patients and this led to the recognition of a defect in aaminoadipic semialdehyde (a-AASA) dehydrogenase (antiquitin) in the cerebral lysine degradation pathway, and mutations in the antiquitin gene (ALDH7A1) on chromosome 5q31. (medscape.com)
Recent studies have shown that the main enzyme defect in pyridoxine-dependent epilepsy is caused by alpha-aminoadipic acid semialdehyde dehydrogenase in the pathway of cerebral lysine degradation. (jmedcasereportsimages.org)
In addition, an oxidatively deaminated product, α-aminoadipic semialdehyde, was detected as a potential precursor for the cross-link in the piceatannol-treated BSA, suggesting that the polymerization of the protein might be mediated by the oxidation of a lysine residue by piceatannol followed by a Schiff base reaction with the ε-amino group of an unoxidized lysine residue. (u-tokyo.ac.jp)
Enzyme2
Then, the C-terminal portion of this enzyme, which contains saccharopine dehydrogenase (SHD) activity (EC:1.5.1.9), catalyzes the oxidation of saccharopine to produce alpha-aminoadipic semialdehyde and glutamate (Reaction 2 on the figure to the right). (wikipedia.org)
The ALDH7A1 gene provides instructions for making an enzyme called α-aminoadipic semialdehyde (α-AASA) dehydrogenase, also known as antiquitin. (medlineplus.gov)
Saccharopine dehydrogenase1
The other function, called saccharopine dehydrogenase, breaks down saccharopine to a molecule called alpha-aminoadipate semialdehyde. (medlineplus.gov)
Mutations1
Most of these mutations change single amino acids in aminoadipic semialdehyde synthase. (medlineplus.gov)
Mitochondrial1
Oxoadipic acid is formed from catalyzation of mitochondrial kynurenine/alpha-aminoadipate aminotransferase on aminoadipic acid. (smpdb.ca)
Characterization1
J. D. Chavez , Bisson, W. H. , and Maier, C. S. , " A targeted mass spectrometry-based approach for the identification and characterization of proteins containing $\alpha$-aminoadipic and $\gamma$-glutamic semialdehyde residues " , Analytical and bioanalytical chemistry , vol. 398, pp. 2905-2914, 2010. (oregonstate.edu)
Levels2
Thus, the function of alpha-aminoadipic semialdehyde synthase is tied to the levels of two integral compounds within the body. (wikipedia.org)
Bok LA, Struys E, Willemsen MA, Been JV, Jakobs C. Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. (medlineplus.gov)
Activity1
The C-terminal portion of alpha-aminoadipic semialdehyde synthase contains the SHD activity and the N-terminal portion contains LKR. (wikipedia.org)
Synthase13
Alpha-aminoadipic semialdehyde synthase is an enzyme encoded by the AASS gene in humans and is involved in their major lysine degradation pathway. (wikipedia.org)
In humans, mutations in the AASS gene, and the corresponding alpha-aminoadipic semialdehyde synthase enzyme are associated with familial hyperlysinemia. (wikipedia.org)
The alpha-aminoadipic semialdehyde synthase protein catalyzes the first two steps in the mammalian L-lysine degradation via saccharopine pathway within the mitochondria, which is thought to be the main metabolic route for lysine degradation in upper eukaryotes. (wikipedia.org)
Thus, the function of alpha-aminoadipic semialdehyde synthase is tied to the levels of two integral compounds within the body. (wikipedia.org)
The C-terminal portion of alpha-aminoadipic semialdehyde synthase contains the SHD activity and the N-terminal portion contains LKR. (wikipedia.org)
To date, a structure of alpha-aminoadipic semialdehyde synthase has not been determined. (wikipedia.org)
Alpha-aminoadipic semialdehyde synthase is encoded for by the AASS gene, and mutations in this gene lead to hyperlysinemia. (wikipedia.org)
The AASS gene provides instructions for making an enzyme called aminoadipic semialdehyde synthase. (medlineplus.gov)
Aminoadipic semialdehyde synthase is involved in the breakdown of the amino acid lysine, a building block of most proteins. (medlineplus.gov)
Most of these mutations change single amino acids in aminoadipic semialdehyde synthase. (medlineplus.gov)
Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities. (medlineplus.gov)
It is caused by mutations in AASS, which encodes α-aminoadipic semialdehyde synthase. (wikipedia.org)
3. Deletion of 2-aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1. (nih.gov)
Alpha-aminoadipate semialdehyde2
The other function, called saccharopine dehydrogenase, breaks down saccharopine to a molecule called alpha-aminoadipate semialdehyde. (medlineplus.gov)
It then breaks down saccharopine to a molecule called alpha-aminoadipate semialdehyde. (nih.gov)
Amino acids2
S)-2-amino-6-oxohexanoate, also known as allysine or L-2-aminoadipate 6-semialdehyde, belongs to the class of organic compounds known as l-alpha-amino acids. (cannabisdatabase.ca)
After storage, the number of modified peptides from myosin heavy chain (MHC) increased over 10-fold in NaCl-treated samples (2.0 M). Various types of side-chain modifications in amino acids were identified, such as di-oxidation, α-aminoadipic semialdehyde (AAS), γ-glutamic semialdehyde (GGS), and protein-malondialdehyde (MDA) adducts, mainly originating from MHC. (bvsalud.org)
Oxidation1
Blood has also been assessed for markers of oxidation in haemoglobin (γ-glutamylsemialdehyde, 2-aminoadipic semialdehyde), plasma proteins (plasma protein 2-aminoadipic semialdehyde: 'PLAAS') and plasma lipids (malondialdehyde). (medscape.com)