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Hyperphenylalaninemia Due to DHPR-Deficiency
smpdb.ca/view/SMP0000489DiseaseWhen tetrahydrobiopterin levels drop, the breakdown of many several amino acids, such as phenylalanine, is reduced and as a result their levels in the blood augment. … One observes that such a mutation results in an error encoding a reductase enzyme, and from there a chain reaction of effects lead to the observed effects of the disease.
Hyperphenylalaninemia Due to Guanosine Triphosphate Cyclohydrolase Deficiency
smpdb.ca/view/SMP0000487DiseaseConsequently, this form of hyperphenylalaninemia is also called GTP cyclohydrolase I deficiency and/or dopa-responsive dystonia. It is an autosomal recessive mutation. … The mutation results in a reduction in the production of BH4 which is a necessary component in the reaction which transforms phenylalanine to other products in the body.
Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency (ptps)
smpdb.ca/view/SMP0000488DiseaseCommon symptoms include: muscular hypotonia, ataxia, bradykinesia, choreoathetosis, depressivity, dysphagia, hyperkinesis, hypsarrhythmia, myoclonus, and others. … BH4 is a cofactor involved in many things and associated with neurotransmitter synthesis. In short, the reduction of levels of BH4 creates issues in the metabolism of phenylalanine.
Adrenal Hyperplasia Type 5 or Congenital Adrenal Hyperplasia Due to 17 alpha-Hydroxylase Deficiency
smpdb.ca/view/SMP0125799DiseaseThese 2 enzymes catalyze pregnenolone and progesterone to their 17-hydroxy forms in steroidogenesis and mediate three key transformations in cortisol and sex steroid synthesis. … Testosterone must be replaced for genetically males (XY) to induce puberty and continued throughout adult life.
Adrenal Hyperplasia Type 3 or Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
smpdb.ca/view/SMP0000373Disease, aldosterone and cortisol. … Symptoms include salt-wasting crises in infancy due to the lack of aldosterone, like spitting, poor weight gain, vomiting, severe dehydration, and circulatory collapse.
Adrenal Hyperplasia Type 3 or Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
smpdb.ca/view/SMP0125797Disease, aldosterone and cortisol. … Symptoms include salt-wasting crises in infancy due to the lack of aldosterone, like spitting, poor weight gain, vomiting, severe dehydration, and circulatory collapse.
Adrenal Hyperplasia Type 5 or Congenital Adrenal Hyperplasia Due to 17 alpha-Hydroxylase Deficiency
smpdb.ca/view/SMP0000372DiseaseThese 2 enzymes catalyze pregnenolone and progesterone to their 17-hydroxy forms in steroidogenesis and mediate three key transformations in cortisol and sex steroid synthesis. … Testosterone must be replaced for genetically males (XY) to induce puberty and continued throughout adult life.
Lorazepam Action Pathway
smpdb.ca/view/SMP0125053Drug actionIt is as well used as an anesthesia premedication in adults to relieve anxiety or to produce sedation/amnesia and for the treatment of status epilepticus. … , chemotherapy-associated anticipatory nausea and vomiting, and psychogenic catatonia.
Enzymes: Vesicular inhibitory amino acid transporter, Gamma-aminobutyric acid type B receptor subunit 2Clonazepam Action Pathway
smpdb.ca/view/SMP0125054Drug actionClonazepam is a long-acting benzodiazepine with intermediate onset commonly used to treat panic disorders, severe anxiety, and seizures. … anticonvulsant activity, and anxiolytic action.
Enzymes: Vesicular inhibitory amino acid transporter, Gamma-aminobutyric acid type B receptor subunit 2Midazolam Action Pathway
smpdb.ca/view/SMP0125055Drug actionMidazolam is administered in a variety of ways including intravenous and intramuscular injection and as a buccal solution, … anticonvulsant activity, and anxiolytic action.
Enzymes: Vesicular inhibitory amino acid transporter, Gamma-aminobutyric acid type B receptor subunit 2