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27 relations: Alpha-Hydroxyglutaric acid, Aphasia, Brain, Cardiomyopathy, Central nervous system, D2HGDH, Dominance (genetics), Encephalitis, Encephalopathy, Enzyme promiscuity, Epilepsy, Epileptic seizure, Hydroxyacid-oxoacid transhydrogenase, Hypotonia, IDH2, Intellectual disability, L2HGDH, Leukoencephalopathy, Macrocephaly, Malate dehydrogenase, Metabolite damage, Organic acidemia, Psychomotor learning, SLC25A1, Visual impairment, 2-hydroxyglutarate dehydrogenase, 2-hydroxyglutarate synthase.
Alpha-Hydroxyglutaric acid
α-Hydroxyglutaric acid (2-hydroxyglutaric acid) is an alpha hydroxy acid form of glutaric acid.
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Aphasia
Aphasia is an inability to comprehend and formulate language because of damage to specific brain regions.
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Brain
The brain is an organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals.
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Cardiomyopathy
Cardiomyopathy is a group of diseases that affect the heart muscle.
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Central nervous system
The central nervous system (CNS) is the part of the nervous system consisting of the brain and spinal cord.
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D2HGDH
D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the D2HGDH gene.
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Dominance (genetics)
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.
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Encephalitis
Encephalitis is inflammation of the brain.
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Encephalopathy
Encephalopathy (from ἐγκέφαλος "brain" + πάθος "suffering") means any disorder or disease of the brain, especially chronic degenerative conditions.
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Enzyme promiscuity
Enzyme promiscuity is the ability of an enzyme to catalyse a fortuitous side reaction in addition to its main reaction.
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Epilepsy
Epilepsy is a group of neurological disorders characterized by epileptic seizures.
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Epileptic seizure
An epileptic seizure is a brief episode of signs or symptoms due to abnormally excessive or synchronous neuronal activity in the brain.
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Hydroxyacid-oxoacid transhydrogenase
In enzymology, a hydroxyacid-oxoacid transhydrogenase is an enzyme that catalyzes the chemical reaction Thus, the two substrates of this enzyme are (S)-3-hydroxybutanoate and 2-oxoglutarate, whereas its two products are acetoacetate and (R)-2-hydroxyglutarate.
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Hypotonia
Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength.
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IDH2
Isocitrate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the IDH2 gene.
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Intellectual disability
Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.
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L2HGDH
L-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the L2HGDH gene, also known as C14orf160, on chromosome 14.
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Leukoencephalopathy
The term leukoencephalopathy is a broad term for leukodystrophy-like diseases.
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Macrocephaly
Macrocephaly is a condition in which the head is abnormally large; this includes the scalp, the cranial bone, and the contents of the cranium.
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Malate dehydrogenase
Malate dehydrogenase (MDH) is an enzyme that reversibly catalyzes the oxidation of malate to oxaloacetate using the reduction of NAD+ to NADH.
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Metabolite damage
Metabolite damage can occur through enzyme promiscuity or spontaneous chemical reactions.
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Organic acidemia
Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino acids, causing a buildup of acids which are usually not present.
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Psychomotor learning
Psychomotor learning is the relationship between cognitive functions and physical movement.
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SLC25A1
The tricarboxylate transport protein, also referred to as citrate carrier (CIC), tricarboxylate carrier, or citrate transport protein, is part of the mitochondrial carrier gene family SLC25.
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Visual impairment
Visual impairment, also known as vision impairment or vision loss, is a decreased ability to see to a degree that causes problems not fixable by usual means, such as glasses.
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2-hydroxyglutarate dehydrogenase
2-hydroxyglutarage dehydrogenase may refer to.
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2-hydroxyglutarate synthase
In enzymology, a 2-hydroxyglutarate synthase is an enzyme that catalyzes the chemical reaction The 3 substrates of this enzyme are propanoyl-CoA, H2O, and glyoxylate, whereas its two products are 2-hydroxyglutarate and CoA.
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2-HGA, 2-Hydroxyglutaricaciduria, 2-hydroxyglutaricaciduria, D-2-hydroxyglutaric aciduria, D2-hydroxyglutaricaciduria, L-2-hydroxyglutaric aciduria, L2-hydroxyglutaricaciduria.
References
[1] https://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria
