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6-Pyruvoyltetrahydropterin synthase deficiency

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6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. [1]

28 relations: Antifolate, Athetosis, Chorea, Dermatitis, Dihydrobiopterin, Dihydrofolate reductase, Dystonia, Epileptic seizure, Gear, Hyperphenylalaninemia, Hypersalivation, Hyperthermia, Hypertonia, Hypokinesia, Hypotonia, International Working Group on Neurotransmitter Related Disorders, Irritability, Journal of Child Neurology, L-DOPA, Methotrexate, Monoamine oxidase inhibitor, Oculogyric crisis, Somnolence, Spasticity, Tetrahydrobiopterin, Tetrahydrobiopterin deficiency, 5-Hydroxytryptophan, 6-Pyruvoyltetrahydropterin synthase.

Antifolate

Antifolates are a class of antimetabolite medications that antagonise (that is, block) the actions of folic acid (vitamin B9).

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Athetosis

Athetosis is a symptom characterized by slow, involuntary, convoluted, writhing movements of the fingers, hands, toes, and feet and in some cases, arms, legs, neck and tongue.

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Chorea

Chorea (or choreia, occasionally) is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias.

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Dermatitis

Dermatitis, also known as eczema, is a group of diseases that results in inflammation of the skin.

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Dihydrobiopterin

Dihydrobiopterin (BH2) is a pteridine compound produced in the synthesis of L-DOPA, dopamine, norepinephrine and epinephrine.

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Dihydrofolate reductase

Dihydrofolate reductase, or DHFR, is an enzyme that reduces dihydrofolic acid to tetrahydrofolic acid, using NADPH as electron donor, which can be converted to the kinds of tetrahydrofolate cofactors used in 1-carbon transfer chemistry.

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Dystonia

Dystonia is a neurological movement disorder syndrome in which sustained or repetitive muscle contractions result in twisting and repetitive movements or abnormal fixed postures.

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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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Gear

A gear or cogwheel is a rotating machine part having cut like teeth, or cogs, which mesh with another toothed part to transmit torque.

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Hyperphenylalaninemia

Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine in the blood.

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Hypersalivation

Hypersalivation (also called ptyalism or sialorrhea) is excessive production of saliva.

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Hyperthermia

Hyperthermia is elevated body temperature due to failed thermoregulation that occurs when a body produces or absorbs more heat than it dissipates.

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Hypertonia

Hypertonia is a term sometimes used synonymously with spasticity and rigidity in the literature surrounding damage to the central nervous system, namely upper motor neuron lesions.

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Hypokinesia

Hypokinesia refers to decreased bodily movement.

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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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International Working Group on Neurotransmitter Related Disorders

The International Working Group on Neurotransmitter Related Disorders is an international collaboration of researchers studying neurotransmitter disorders.

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Irritability

Irritability is the excitatory ability that living organisms have to respond to changes in their environment.

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Journal of Child Neurology

The Journal of Child Neurology is a peer-reviewed medical journal that covers the field of pediatric neurology.

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L-DOPA

L-DOPA, also known as levodopa or L-3,4-dihydroxyphenylalanine is an amino acid that is made and used as part of the normal biology of humans, as well as some animals and plants.

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Methotrexate

Methotrexate (MTX), formerly known as amethopterin, is a chemotherapy agent and immune system suppressant.

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Monoamine oxidase inhibitor

Monoamine oxidase inhibitors (MAOIs) are a class of drugs that inhibit the activity of one or both monoamine oxidase enzymes: monoamine oxidase A (MAO-A) and monoamine oxidase B (MAO-B).

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Oculogyric crisis

Oculogyric crisis (OGC) is the name of a dystonic reaction to certain drugs or medical conditions characterized by a prolonged involuntary upward deviation of the eyes.

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Somnolence

Somnolence (alternatively "sleepiness" or "drowsiness") is a state of strong desire for sleep, or sleeping for unusually long periods (compare hypersomnia).

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Spasticity

Spasticity is a feature of altered skeletal muscle performance with a combination of paralysis, increased tendon reflex activity, and hypertonia.

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Tetrahydrobiopterin

Tetrahydrobiopterin (BH4, THB), also known as sapropterin, is a naturally occurring essential cofactor of the three aromatic amino acid hydroxylase enzymes, used in the degradation of amino acid phenylalanine and in the biosynthesis of the neurotransmitters serotonin (5-hydroxytryptamine, 5-HT), melatonin, dopamine, norepinephrine (noradrenaline), epinephrine (adrenaline), and is a cofactor for the production of nitric oxide (NO) by the nitric oxide synthases.

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Tetrahydrobiopterin deficiency

Tetrahydrobiopterin deficiency (THBD, BH4D), also called THB or BH4 deficiency, is a rare metabolic disorder that increases the blood levels of phenylalanine.

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5-Hydroxytryptophan

5-Hydroxytryptophan (5-HTP), also known as oxitriptan, is a naturally occurring amino acid and chemical precursor as well as a metabolic intermediate in the biosynthesis of the neurotransmitter serotonin.

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6-Pyruvoyltetrahydropterin synthase

In enzymology, a 6-pyruvoyltetrahydropterin synthase (PTPS) is an enzyme that catalyzes the following chemical reaction: 7,8-Dihydroneopterin triphosphate \rightleftharpoons 6-pyruvoyltetrahydropterin + triphosphate This reaction is the second step (shown above) in the biosynthesis of Tetrahydrobiopterin from GTP, which is used as a cofactor in the synthesis of Aromatic amino acid Monooxygenases and Nitric oxide synthase PTPS converts 7,8-Dihydroneopterin triphosphate to 6-pyruvoyltetrahydropterin (PTP) through the loss of the triphosphate group, a stereospecific reduction of the double bond between the top right nitrogen and carbon in the ring on the ightht, The oxidation of the hydroxyl groups located on the first and second carbons of the side chain, and an internal base-catalyzed hydrogen tnsfer. 6-pyruvoyltetrahydropterin synthase (PTPS) can be found in the cytoplasm as well as the nucleus of cells according to immunohistochemical studies conducted.

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6-pyruvoyl-tetrahydropterin synthase deficiency, 6-pyruvoyltetrahydropterin synthase deficiency.

References

[1] https://en.wikipedia.org/wiki/6-Pyruvoyltetrahydropterin_synthase_deficiency

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