Pathways

Aromatic L-Aminoacid Decarboxylase Deficiency (DOPA decarboxylase; DDC) is an autosomal recessive disease caused by a mutation in the DDC gene which codes for aromatic-L-aminoacid decarboxylase. A deficiency in this enzyme results in accumulation of 3-methoxytyrosine, 5-hydroxy-L-tryptophan, and L-Dopa in plasma, spinal fluid, and urine; 3-methoxytyramine and dopamine in urine. It also results in decreased concentrations of homovanillic acid, S-adenosylmethionine, and 5-hydroxytryptophol in spinal fluid; and epinephrine, norepinephrine in plasma. Symptoms include temperature instability, hypotonia, mental and motor retardation, and cerebral atrophy.

Aromatase deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of mutations in the CYP19A1 gene. The CYP19A1 gene encodes for the enzyme aromatase. Aromatase converts androgens to estrogens which is vital for bone growth and regulation of blood sugar levels. Symptoms of decrease in estrogen and increase androgens such as testosterone can cause impaired female sexual development, unusual bone growth, insulin resistance, and a variety of other symptoms. It presents with virilization of pregnant mothers during the antenatal period, and virilization of female fetuses at birth. Treatments include lifelong hormone therapy. There have been about 20 reported cases of Aromatase Deficiency worldwide.

Aromatase deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of mutations in the CYP19A1 gene. The CYP19A1 gene encodes for the enzyme aromatase. Aromatase converts androgens to estrogens which is vital for bone growth and regulation of blood sugar levels. Symptoms of decrease in estrogen and increase androgens such as testosterone can cause impaired female sexual development, unusual bone growth, insulin resistance, and a variety of other symptoms. It presents with virilization of pregnant mothers during the antenatal period, and virilization of female fetuses at birth. Treatments include lifelong hormone therapy. There have been about 20 reported cases of Aromatase Deficiency worldwide.

Aromatase deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of mutations in the CYP19A1 gene. The CYP19A1 gene encodes for the enzyme aromatase. Aromatase converts androgens to estrogens which is vital for bone growth and regulation of blood sugar levels. Symptoms of decrease in estrogen and increase androgens such as testosterone can cause impaired female sexual development, unusual bone growth, insulin resistance, and a variety of other symptoms. It presents with virilization of pregnant mothers during the antenatal period, and virilization of female fetuses at birth. Treatments include lifelong hormone therapy. There have been about 20 reported cases of Aromatase Deficiency worldwide.

Aromatase deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of mutations in the CYP19A1 gene. The CYP19A1 gene encodes for the enzyme aromatase. Aromatase converts androgens to estrogens which is vital for bone growth and regulation of blood sugar levels. Symptoms of decrease in estrogen and increase androgens such as testosterone can cause impaired female sexual development, unusual bone growth, insulin resistance, and a variety of other symptoms. It presents with virilization of pregnant mothers during the antenatal period, and virilization of female fetuses at birth. Treatments include lifelong hormone therapy. There have been about 20 reported cases of Aromatase Deficiency worldwide.

Aripiprazole is an atypical antipsychotic used in the treatment of a wide variety of mood and psychotic disorders, such as schizophrenia, bipolar I, major depressive disorder, irritability associated with autism, and Tourette's syndrome. Aripiprazole may be administered with or without food and is available in oral tablets, disintegrating tablets (10 mg and 15 mg), oral solution, and intramuscular (IM) injections for acute symptoms and long-acting IM injections. Aripiprazole is a quinolinone antipsychotic that is a partial agonist at the D2 and 5HT-1a receptors and an antagonist at the 5HT-2a receptor. It has a high affinity for D2, D3, 5HT-1a, and 5HT2a receptors and moderate affinity for D4, 5HT-2c, 5-HT7, alpha-1 adrenergic, and H1 receptors. Aripiprazole has no affinity for muscarinic receptors at recommended doses. It stabilizes dopamine and serotonin within the nucleus accumbens, ventral tegmental area, and frontal cortex resulting in the management of positive, negative, and cognitive symptoms in schizophrenia. Aripiprazole demonstrates functional selectivity in intracellular signaling pathways by requiring a greater than 90% occupancy rate at D2 receptors to be clinically active, thus not producing as many extrapyramidal symptoms. Aripiprazole will act as a functional antagonist in areas of high dopamine, such as the mesolimbic pathway, while remaining inactive in areas with normal dopamine, such as the nigrostriatal and tuberoinfundibular pathways. The partial agonism of aripiprazole at D2 receptors may be responsible for the effective management of positive, negative, and cognitive symptoms of schizophrenia. Research has shown that it has more selective effects on the mesolimbic dopaminergic pathway than haloperidol and olanzapine. Although the side effects of aripiprazole are similar to those found in typical and atypical antipsychotics, the degree of extrapyramidal symptoms (EPS) and metabolic syndromes are less due to receptor specificity. Aripiprazole is associated with lower incidences of weight gain, hypercholesterolemia, glucose dysregulation, cardiovascular abnormalities, and hyperprolactinemia.

Aripiprazole lauroxil is a long-acting injectable atypical antipsychotic drug used in the treatment of schizophrenia in adult patients. It is a prodrug of aripiprazole, which acts as a partial agonist at the D2 and 5-HT1A receptors, and as an antagonist at the 5-HT2A receptors. Aripiprazole, which is a major pharmacological metabolite of aripiprazole lauroxil, serves to improve the positive and negative symptoms of schizophrenia by modulating dopaminergic signalling pathways. Aripiprazole lauroxil is reported to have minimal effects on sexual function or prolactin levels. The pharmacological activity of aripiprazole lauroxil is thought to be mainly mediated by its metabolite aripiprazole, and to a lesser extent, dehydro-aripiprazole.

The pharmacological activity of aripiprazole lauroxil is thought to be mainly mediated by its metabolite aripiprazole, and to a lesser extent, dehydro-aripiprazole. Aripiprazole functions as a partial agonist at the dopamine D2 and the serotonin 5-HT1A receptors, and as an antagonist at the serotonin 5-HT2A receptor