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Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADH)
smpdb.ca/view/SMP0125810DiseaseThis enzyme is responsible for the beta-oxidation of 3-hydroxyhexanoyl-CoA and 3-hydroxybutyryl-CoA into 3-oxohexanoyl-CoA and acetoacetyl-CoA respectively. … 3-hydroxyacyl-CoA dehydrogenase deficiency, also known as HADH deficiency or formerly SCHAD deficiency, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the mitochondrial
Enzymes: Enoyl-CoA hydratase, mitochondrial, 3-ketoacyl-CoA thiolase, mitochondrial2-Methyl-3-hydroxybutyryl-CoA Dehydrogenase Deficiency
smpdb.ca/view/SMP0000137Disease2-Methyl-3-hydroxybutyryl CoA dehydrogenase deficiency (Hydroxyl-CoA dehydrogenase deficiency; MHBD) is a rare inborn disease of metabolism caused by a mutation in the HSD17B10 gene which codes for 3-hydroxyacyl-CoA
Enzymes: Enoyl-CoA hydratase, mitochondrial, Methylmalonyl-CoA mutase, mitochondrial3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency
smpdb.ca/view/SMP0000138Diseasethe HMGCL gene which codes for hydroxymethylglutaryl-CoA lyase. … 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (3-Hydroxy-3-methylglutaric acidemia; Leucine metabolism, defect in, HMG-CoA lyase deficiency) is an autosomal recessive disease caused by a mutation in
Enzymes: Enoyl-CoA hydratase, mitochondrial, Methylmalonyl-CoA mutase, mitochondrial3-Methylcrotonyl-CoA Carboxylase Deficiency Type I
smpdb.ca/view/SMP0000237DiseaseSymptoms include recurring episodes of vomiting and diarrhea, lethargy, hypotonia, seizures, and coma.
Enzymes: Enoyl-CoA hydratase, mitochondrial, Methylmalonyl-CoA mutase, mitochondrial2-Methyl-3-hydroxybutyryl-CoA Dehydrogenase Deficiency
smpdb.ca/view/SMP0125658Disease2-Methyl-3-hydroxybutyryl CoA dehydrogenase deficiency (Hydroxyl-CoA dehydrogenase deficiency; MHBD) is a rare inborn disease of metabolism caused by a mutation in the HSD17B10 gene which codes for 3-hydroxyacyl-CoA
Enzymes: Enoyl-CoA hydratase, mitochondrial, Methylmalonyl-CoA mutase, mitochondrialLong Chain Acyl-CoA Dehydrogenase Deficiency (LCAD)
smpdb.ca/view/SMP0000539DiseaseVery Long Chain Acyl CoA Dehydrogenase Deficiency (VLCADD) is a rare disorder that is inherited through an autosomal recessive trait, and prevents the body from properly metabolizing very long chain fatty
Drugs: Adenosine phosphate · NADH · ATP · Levocarnitine · Magnesium cation · Flavin adenine dinucleotide +2 moreEnzymes: Enoyl-CoA hydratase, mitochondrial, Long-chain-fatty-acid--CoA ligase 1Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
smpdb.ca/view/SMP0000542DiseaseMCAD’s action results in the introduction of a trans-double-bond between C2 and C3 of the acyl-CoA thioester substrate. … MCADD is an autosomal recessive disorder associated with a mutation in the enzyme medium-chain acyl-CoA dehydrogenase (MCAD).
Drugs: Adenosine phosphate · NADH · ATP · Levocarnitine · Magnesium cation · Flavin adenine dinucleotide +2 moreEnzymes: Enoyl-CoA hydratase, mitochondrial, Long-chain-fatty-acid--CoA ligase 13-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency
smpdb.ca/view/SMP0125660Diseasethe HMGCL gene which codes for hydroxymethylglutaryl-CoA lyase. … 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (3-Hydroxy-3-methylglutaric acidemia; Leucine metabolism, defect in, HMG-CoA lyase deficiency) is an autosomal recessive disease caused by a mutation in
Enzymes: Enoyl-CoA hydratase, mitochondrial, Methylmalonyl-CoA mutase, mitochondrial3-Methylcrotonyl-CoA Carboxylase Deficiency Type I
smpdb.ca/view/SMP0125662DiseaseSymptoms include recurring episodes of vomiting and diarrhea, lethargy, hypotonia, seizures, and coma.
Enzymes: Enoyl-CoA hydratase, mitochondrial, Methylmalonyl-CoA mutase, mitochondrialMedium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
smpdb.ca/view/SMP0125743DiseaseMCAD’s action results in the introduction of a trans-double-bond between C2 and C3 of the acyl-CoA thioester substrate. … MCADD is an autosomal recessive disorder associated with a mutation in the enzyme medium-chain acyl-CoA dehydrogenase (MCAD).
Drugs: Adenosine phosphate · NADH · ATP · Levocarnitine · Magnesium cation · Flavin adenine dinucleotide +2 moreEnzymes: Enoyl-CoA hydratase, mitochondrial, Long-chain-fatty-acid--CoA ligase 1