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3-Hydroxyisobutyric Aciduria
smpdb.ca/view/SMP0125674DiseaseSigns and symptoms of 3-hydroxyisobutyric aciduria include developmental delay, dysmorphic facial features, and brain abnormalities. … This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrialIsovaleric Acidemia
smpdb.ca/view/SMP0125676DiseaseThere are two major phenotypes of IVA: (1) an acute form and (2) a late-onset form. … There is usually a history of poor feeding, vomiting, lethargy, and seizures. In the acute form, metabolic acidosis is present, usually with an elevated anion gap and ketosis.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrialMaple Syrup Urine Disease
smpdb.ca/view/SMP0125661DiseaseTreatment includes long-term dietary management which aims to restrict the consumption of branched-chain amino acids. … These genes code for a protein which is vital in the breakdown of amino acids, specifically the amino acids leucine, isoleucine and valine.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, 4F2 cell-surface antigen heavy chain3-Methylglutaconic Aciduria Type III
smpdb.ca/view/SMP0000140DiseaseA deficiency of this enzyme results in accumulation of 3-methylglutaconic acid and methylglutaric acid. Symptoms include ataxia, dysarthria, optic atrophy, and neurological deterioration. … 3-Methylglutaconic aciduria type 3 (Costeff syndrome; Optic atrophy plus syndrome) is an autosomal recessive disease caused by a deficiency in the OPA3 code which does for optic atrophy 3 protein.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrial3-Methylglutaconic Aciduria Type IV
smpdb.ca/view/SMP0000141Disease3-Methylglutaconic Aciduria Type IV, also called MGA, Type IV and MGA4, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective methylglutaconyl-CoA hydratase … Symptoms of the disorder include poor growth and neurological degression. Currently, there is no effective treatment for 3-MGA type IV.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrialbeta-Ketothiolase Deficiency
smpdb.ca/view/SMP0000173DiseaseA 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, mitochondrialMaple Syrup Urine Disease
smpdb.ca/view/SMP0000199DiseaseTreatment includes long-term dietary management which aims to restrict the consumption of branched-chain amino acids. … These genes code for a protein which is vital in the breakdown of amino acids, specifically the amino acids leucine, isoleucine and valine.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrialMethylmalonic Aciduria
smpdb.ca/view/SMP0000200Disease3-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, mitochondrialIsovaleric Aciduria
smpdb.ca/view/SMP0000238DiseaseIsovaleryl CoA dehydrogenase is part of the acyl-CoA dehydrogenase family and is involved in the catabolism of leucine. … Symptoms include encephalopathy, ketosis, metabolic acidosis, pancreatitis, sweaty feet odor, and thrombocytopenia.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrialIsovaleric Acidemia
smpdb.ca/view/SMP0000524DiseaseThere are two major phenotypes of IVA: (1) an acute form and (2) a late-onset form. … There is usually a history of poor feeding, vomiting, lethargy, and seizures. In the acute form, metabolic acidosis is present, usually with an elevated anion gap and ketosis.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrial