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Carnitine Palmitoyl Transferase Deficiency II
smpdb.ca/view/SMP0000541DiseaseDeficiencies or mutations in the CPT2 gene lead to disorders of long-chain fatty acid oxidation. … CPT2 is responsible for the formation of acylcarnitines by catalyzing the transfer of the acyl group of a long-chain fatty acyl-CoA from CoA to carnitine.
Drugs: Adenosine phosphate · NADH · ATP · Levocarnitine · Magnesium cation · Flavin adenine dinucleotide +2 moreEnzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Long-chain-fatty-acid--CoA ligase 1Trifunctional Protein Deficiency
smpdb.ca/view/SMP0000545DiseaseIn infancy, symptoms would include lethargy, hypoglycaemia and hypotonia. Infants are also at higher risk for sudden death and heart problems. … The enzyme affected is required to metabolize long-chain fatty acids, which makes a patients ability to convert fats to energy very difficult. This is exacerbated by periods without food.
Drugs: Adenosine phosphate · NADH · ATP · Levocarnitine · Magnesium cation · Flavin adenine dinucleotide +2 moreEnzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Long-chain-fatty-acid--CoA ligase 1Carnitine Palmitoyl Transferase Deficiency I
smpdb.ca/view/SMP0125739DiseaseIt is responsible for the formation of acylcarnitines by catalyzing the transfer of the acyl group of a long-chain fatty acyl-CoA from CoA to carnitine. … The condition's severity varies greatly among affected individuals and many of the signs and symptoms manifest during early childhood.
Drugs: Adenosine phosphate · NADH · ATP · Levocarnitine · Magnesium cation · Flavin adenine dinucleotide +2 moreEnzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Long-chain-fatty-acid--CoA ligase 1Carnitine Palmitoyl Transferase Deficiency II
smpdb.ca/view/SMP0125742DiseaseDeficiencies or mutations in the CPT2 gene lead to disorders of long-chain fatty acid oxidation. … CPT2 is responsible for the formation of acylcarnitines by catalyzing the transfer of the acyl group of a long-chain fatty acyl-CoA from CoA to carnitine.
Drugs: Adenosine phosphate · NADH · ATP · Levocarnitine · Magnesium cation · Flavin adenine dinucleotide +2 moreEnzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Long-chain-fatty-acid--CoA ligase 1Glutaric Aciduria Type I (Fatty Acid Metabolism)
smpdb.ca/view/SMP0125737DiseaseSymptoms include encephalopathy, grimacing, dystonia, metabolic acidosis, and hygroma. Treatment includes a low-protein diet, L-carnitine, riboflavin, and anticonvulsants. … A deficiency in this enzyme results in accumulation of 3-hydroxybutyric acid, 3-hydroxyglutaric acid, glutaconic acid, glutaric acid, and ketone bodies in urine.
Drugs: Adenosine phosphate · NADH · ATP · Levocarnitine · Magnesium cation · Flavin adenine dinucleotide +4 moreEnzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Long-chain-fatty-acid--CoA ligase 1Propanoate Metabolism
smpdb.ca/view/SMP0000016MetabolicThis compound is also produced by bacteria and imported into cells. Hydroxypropionate can be converted into 3-hydroxypropionyl-CoA. … Both propionyl-CoA and methylcitrate are known TCA inhibitors. Glial cells are particularly susceptible to propionyl-CoA accumulation.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrialMalonic Aciduria
smpdb.ca/view/SMP0000198DiseaseSymptoms of the disorder include delayed development, hypotonia, seizures, vomiting, diarrhea and cardiomyopathy. … The MLYCD gene codes for the protein malonyl-CoA decarboxylase which regulates the creation and degradation of fatty acids.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrialMalonic Aciduria
smpdb.ca/view/SMP0125619DiseaseSymptoms of the disorder include delayed development, hypotonia, seizures, vomiting, diarrhea and cardiomyopathy. … The MLYCD gene codes for the protein malonyl-CoA decarboxylase which regulates the creation and degradation of fatty acids.
Enzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Propionyl-CoA carboxylase alpha chain, mitochondrialMethylmalonic Aciduria Due to Cobalamin-Related Disorders
smpdb.ca/view/SMP0000201Diseaseacid, 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/SMP0000502DiseaseSymptoms 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, mitochondrial