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3-Methylcrotonyl-CoA Carboxylase Deficiency Type I
smpdb.ca/view/SMP0000237DiseaseSymptoms include recurring episodes of vomiting and diarrhea, lethargy, hypotonia, seizures, and coma. … As would naturally be expected, this causes the body to be unable to uptake and breakdown leucine properly.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrial3-Hydroxyisobutyric Acid Dehydrogenase Deficiency
smpdb.ca/view/SMP0000521DiseaseThis enzyme converts 2-methyl-3-oxopropanoate, CoA and water into propanoyl-CoA, using NAD+ as an oxidizing agent, and producing a hydrogen ion and hydrogencarbonate as byproducts. … Symptoms of the disorder include dysmorphic features, developmental delays and intellectual disabilities.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrial3-Hydroxyisobutyric Aciduria
smpdb.ca/view/SMP0000522DiseaseSigns 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, mitochondrialIsobutyryl-CoA Dehydrogenase Deficiency
smpdb.ca/view/SMP0000523DiseaseIts 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/SMP0125658DiseaseSymptoms 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, mitochondrialPropionic Acidemia
smpdb.ca/view/SMP0125659DiseaseA 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, mitochondrial3-Methylglutaconic Aciduria Type I
smpdb.ca/view/SMP0125664DiseaseSymptoms 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, mitochondrial3-Methylglutaconic Aciduria Type III
smpdb.ca/view/SMP0125667DiseaseA 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, mitochondrialIsovaleric Aciduria
smpdb.ca/view/SMP0125671DiseaseIsovaleryl 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, mitochondrial3-Methylglutaconic Aciduria Type IV
smpdb.ca/view/SMP0125672Disease3-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, mitochondrial