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Methylmalonic Aciduria Due to Cobalamin-Related Disorders
smpdb.ca/view/SMP0125620Diseaseacid, 3-Hydroxyvaleric acid, glycine, methylcitric acid and methylmalonic acid in urine; and methylmalonic acid in spinal fluid. … Methylcobalamin (MeCbl) is the cofactor of methionine synthase and involved in the conversion of homocysteine to methionine.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrialMalonyl-CoA Decarboxylase Deficiency
smpdb.ca/view/SMP0125621DiseaseSymptoms of the disorder include hypotonia (i.e. weak muscle tone), hypoglycemia (i.e. low blood sugar), diarrhea, seizures and vomiting. … Malonyl CoA decarboxylase deficiency, also claled MCD deficiency, is a rare inborn error of fatty acid metabolism and autosomal-recessive metabolic disorder, which is caused by a defective mitochondrial
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrial3-Methylglutaconic Aciduria Type I
smpdb.ca/view/SMP0000139DiseaseSymptoms include hypoglycemia, low birth weight, coma, seizures, and mental retardation. Treatment includes a low protein diet. … A deficiency in this enzyme results in accumulation of 3-hydroxyisovaleric acid, 3-methylglutaconic acid, and methylglutaric acid in urine.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrialMethylmalonate Semialdehyde Dehydrogenase Deficiency
smpdb.ca/view/SMP0000384DiseaseSymptoms inclue failure to thrive, large liver, mental and motor retardation and vomiting. … methylmalonate semialdehydes to acetyl- and propionyl-CoA, respectively.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrialbeta-Ketothiolase Deficiency
smpdb.ca/view/SMP0125657DiseaseA deficiency in this enzyme results in accumulation of ammonia and ketone bodies in blood; and 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, 3-hydroxybutyric acid, tiglylglycine, and ketone … Symptoms include ketosis, seizures, organic acids in urine, and hyperammonemia. Treatment includes a low protein diet and L-carnitine.h3. h2.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrialMethylmalonic Aciduria
smpdb.ca/view/SMP0125670Disease3-Hydroxyvaleric acid, glycine, methylcitric acid and methylmalonic acid in urine; and methylmalonic acid in spinal fluid. … Symptoms include anemia, dehydration, growth retardation, nephrosis, respiratory distress and metabolic acidosis.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrialIsobutyryl-CoA Dehydrogenase Deficiency
smpdb.ca/view/SMP0125675DiseaseIts main function is to catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of branched-chain amino acids, specifically valine. … Some individuals with IBDD have developed features such as a weakened and enlarged heart (dilated cardiomyopathy), weak muscle tone (hypotonia), and developmental delay.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrial2-Methyl-3-hydroxybutyryl-CoA Dehydrogenase Deficiency
smpdb.ca/view/SMP0000137DiseaseSymptoms include cerebal atrophy, motor and mental retardation, overactivity and behavior issues, seizures and progressive neurological defects leading to early death. … Treatment includes a high carbohydrate and low protein diet.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrial3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency
smpdb.ca/view/SMP0000138Diseaseacid in urine; and ammonia in blood. … A deficiency in this enzyme results in accumulation of 3-hydroxymethylglutaric acid, 3-hydroxyisovaleric acid, 3-methylcrotonylglycine and 3-methylglutaconic acid (cis and trans form), and methylglutaric
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrialPropionic Acidemia
smpdb.ca/view/SMP0000236DiseaseA mutation in this enzyme causes accumulation of ammonia and propionylcarnitine (C3) in the blood; carnitine , glutamine, glycine, and propionic acid in the plasma; 3-hydroxypropionic acid, 3-hydroxyvaleric … acid, 5-oxoproline, acylcarnitin, glycine, methylcitric acid, propionylglycine and tiglylcine in the urine.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrial