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Citrullinemia Type I
smpdb.ca/view/SMP0125767DiseaseCitrullinemia Type 1, also called argininosuccinate synthetase deficiency, argininosuccinic acid synthetase deficiency or ASS deficiency, is a rare inborn error of metabolism (IEM) and autosomal recessive
Drugs: Pyridoxal phosphate · Pyruvic acid · Arginine · Aspartic acid · Ornithine · L-Glutamine +11 moreEnzymes: Neutral amino acid transporter A, Neutral amino acid transporter B(0)Argininosuccinic Aciduria
smpdb.ca/view/SMP0000003DiseaseIt results in accumulation of citrulline, arginosuccinic acid, L-arginine, and L-glutamic acid in plasma as well as ammonia in blood. Infants are lethargic and unwilling to eat. … Argininosuccinic Aciduria, (Argininosuccinase Deficiency, Argininosuccinate Lyase Deficiency, ASL Deficiency) is an autosomal recessive disorder caused by a mutation in the ASL gene which codes for argininosuccinate
Drugs: Pyridoxal phosphate · Pyruvic acid · Arginine · Aspartic acid · Ornithine · L-Glutamine +11 moreEnzymes: Neutral amino acid transporter A, Neutral amino acid transporter B(0)Caffeine Nervous Action Pathway
smpdb.ca/view/SMP0125297Drug actionCaffeine is a central nervous system stimulant present in tea, coffee, cola beverages, analgesic drugs, and agents used to increase alertness. Consistent intake of caffeine increases the population of adenosine receptors, which can poten...
Drugs: Pyridoxal phosphate · Glutamic acid · Caffeine · Norepinephrine · Adenosine · Calcium +1 moreEnzymes: Gamma-aminobutyric acid receptor subunit alpha-1, Gamma-aminobutyric acid receptor subunit gamma-2Argininemia
smpdb.ca/view/SMP0125765Diseasecauses accumulation of ammonia in blood; arginine, creatine, guanidinoacetate, and homoarginine in plasma; urea nitrogen in serum; arginine and homoarginine in spinal fluid; and arginiosuccinate orotic acid
Drugs: Pyridoxal phosphate · Pyruvic acid · Arginine · Aspartic acid · Ornithine · L-Glutamine +11 moreEnzymes: Y+L amino acid transporter 1, Neutral amino acid transporter ACatecholamine Biosynthesis
smpdb.ca/view/SMP0000012MetabolicThey are composed of a catechol group and are derived from amino acids. The commonly found catecholamines are epinephrine (adrenaline), norepinephrine (noradrenaline) and dopamine. … The L-DOPA is then converted to dopamine via aromatic L-amino acid decarboxylase (AADC), which becomes norepinephrine via dopamine beta-hydroxylase (DBH); and finally is converted to epinephrine via phenylethanolamine
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Tyrosine · Norepinephrine · Epinephrine +4 moreEnzymes: Aromatic-L-amino-acid decarboxylaseAromatic L-Aminoacid Decarboxylase Deficiency
smpdb.ca/view/SMP0000170DiseaseIt also results in decreased concentrations of homovanillic acid, S-adenosylmethionine, and 5-hydroxytryptophol in spinal fluid; and epinephrine, norepinephrine in plasma.
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Tyrosine · Norepinephrine · Epinephrine +4 moreEnzymes: Aromatic-L-amino-acid decarboxylaseAromatic L-Aminoacid Decarboxylase Deficiency
smpdb.ca/view/SMP0125610DiseaseIt also results in decreased concentrations of homovanillic acid, S-adenosylmethionine, and 5-hydroxytryptophol in spinal fluid; and epinephrine, norepinephrine in plasma.
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Tyrosine · Norepinephrine · Epinephrine +4 moreEnzymes: Aromatic-L-amino-acid decarboxylaseEthosuximide Action Pathway
smpdb.ca/view/SMP0126318Drug actionEthosuximide is an anticonvulsant used to treat petit mal seizures. It can be found under the brand name Zarontin. An anticonvulsant especially useful in the treatment of absence seizures unaccompanied by other types of seizures. Used in...
Drugs: Pyridoxal phosphate · Glutamic acid · ATP · Ethosuximide · Calcium · Magnesium cation +3 moreEnzymes: Vesicular inhibitory amino acid transporter, Gamma-aminobutyric acid type B receptor subunit 2Trimethadione Action Pathway
smpdb.ca/view/SMP0126340Drug actionTrimethadione is an anticonvulsant agent indicated for the control of treatment-refractory petit mal seizures. An anticonvulsant effective in absence seizures, but generally reserved for refractory cases because of its toxicity. Parameth...
Drugs: Pyridoxal phosphate · Glutamic acid · ATP · Trimethadione · Calcium · Magnesium cation +3 moreEnzymes: Vesicular inhibitory amino acid transporter, Gamma-aminobutyric acid type B receptor subunit 2Methsuximide Action Pathway
smpdb.ca/view/SMP0126331Drug actionMethsuximide is a succinimide anticonvulsant that increases the seizure threshold. Primarily used for childhood absence seizures. Functions by suppressing paroxysmal spike-and-wave patterns associated with lapses of consciousness in abse...
Drugs: Pyridoxal phosphate · Glutamic acid · ATP · Calcium · Magnesium cation · Cyclic adenosine monophosphate +3 moreEnzymes: Vesicular inhibitory amino acid transporter, Gamma-aminobutyric acid type B receptor subunit 2