Search
Methylmalonic Aciduria Due to Cobalamin-Related Disorders
smpdb.ca/view/SMP0000201DiseaseMethylcobalamin (MeCbl) is the cofactor of methionine synthase and involved in the conversion of homocysteine to methionine. … acid, 3-Hydroxyvaleric acid, glycine, methylcitric acid and methylmalonic acid in urine; and methylmalonic acid in spinal fluid.
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.
Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency (ptps)
smpdb.ca/view/SMP0125585DiseaseCommon 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.
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, cblG Complementation Type
smpdb.ca/view/SMP0125684DiseaseSymptoms include megaloblastic anemia, and can also include developmental delays, seisures and kidney failure. Treatment with vitamin B12, as well as folates and betaine is effective. … This enzyme is responsible for forming L-methionine and tetrahydrofolic acid from homocysteine and 5-methyltetrahydrofolic acid.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreAdrenal 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.
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, cblG Complementation Type
smpdb.ca/view/SMP0000570DiseaseSymptoms include megaloblastic anemia, and can also include developmental delays, seisures and kidney failure. Treatment with vitamin B12, as well as folates and betaine is effective. … This enzyme is responsible for forming L-methionine and tetrahydrofolic acid from homocysteine and 5-methyltetrahydrofolic acid.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreAdrenal 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.