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Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD Deficiency)
smpdb.ca/view/SMP0125738DiseaseShort Chain Acyl CoA Dehydrogenase Deficiency (SCAD Deficiency) is caused by mutation in the gene encoding short-chain acyl-CoA dehydrogenase, an enzyme which normally breaks down short chain fatty acids … Symptoms include hypoglycemia, hypotonia, microcephaly, failure to thrive, lactic acidosis, peripheral neuropathy, and vomiting.
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 1Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Deficiency (Fatty Acid Elongation in Mitochondria)
smpdb.ca/view/SMP0125748DiseaseHADHA converts medium- and long-chain 2-enoyl-CoA compounds into the corresponding 3-ketoacyl-CoA compounds when NAD is present, and acetyl-CoA when NAD and CoASH are present. … Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, which is also known LCHADD, is a rare inherited inborn error of metabolism (IEM) of long-chain fatty acid metabolism.
Mitochondrial Beta-Oxidation of Short Chain Saturated Fatty Acids
smpdb.ca/view/SMP0000480MetabolicMedium to long chain fatty acids go directly to the mitochondria, whereas very long chain fatty acids (>22 carbons) may be first metabolized down to octanyl-CoA in the peroxisomes and then transported … Short and medium chain fatty acids can enter the mitochondria directly via diffusion where they are activated in the mitochondrial matrix by acyl-coenzyme A synthetases.
Enzymes: Short-chain specific acyl-CoA dehydrogenase, mitochondrial, Long-chain specific acyl-CoA dehydrogenase, mitochondrialLong Chain Acyl-CoA Dehydrogenase Deficiency (LCAD) (Fatty Acid Metabolism)
smpdb.ca/view/SMP0125740DiseaseLong Chain Acyl CoA Dehydrogenase Deficiency (LCADD) is a rare disorder that is inherited through an autosomal recessive trait, and prevents the body from properly metabolizing very long chain fatty acids … To help control acute episodes, treatment includes maintaining a high carbohydrate and low fat diet, and avoiding fasting for more than 12 hours.
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
smpdb.ca/view/SMP0000185DiseaseSymptoms 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 +2 moreEnzymes: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, Long-chain-fatty-acid--CoA ligase 1Carnitine Palmitoyl Transferase Deficiency I
smpdb.ca/view/SMP0000538DiseaseIt 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 1Ethylmalonic Encephalopathy
smpdb.ca/view/SMP0125736DiseaseSymptoms, which present at birth, include peripheral neuropathy, seizures, microcephaly, and hypotonia lead to premature death. Treatment includes riboflavin and L-carnitine. … A deficiency of this protein inhibits proper energy production in mitochondria and a deficiency in cytochrome c oxidase.
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/SMP0125744DiseaseIn 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 1Ethylmalonic Encephalopathy
smpdb.ca/view/SMP0000181DiseaseSymptoms, which present at birth, include peripheral neuropathy, seizures, microcephaly, and hypotonia lead to premature death. Treatment includes riboflavin and L-carnitine. … A deficiency of this protein inhibits proper energy production in mitochondria and a deficiency in cytochrome c oxidase.
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 1Fatty Acid Metabolism
smpdb.ca/view/SMP0000051MetabolicFatty acids constitute a large energy source for the body. The cellular membrane is also made up of fatty acids. During starvation times, fatty acids can provide energy to humans for numerous days. Fatty acid metabolism is also known as ...
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 1