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The branched-chain amino acids include isoleucine, leucine and valine. [1] Organic acids refer to the amino acids and certain odd-chained fatty acids which are affected by these disorders. The four main types of organic acidemia are: methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease. [1]
Branched-chain keto acid dehydrogenase kinase deficiency (BCKDK deficiency) is a disease resulting from mutations of the BCKDK gene. Patients with BCKDK deficiency have low levels of branched chain amino acids (BCAA) in their organism due to accelerated breakdown of these essential amino acids.
Methylmalonic acidemia has an autosomal recessive pattern of inheritance.. Methylmalonic acidemias have an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene—one from each parent—must be inherited to be affected by the disorder.
Adenosine monophosphate deaminase deficiency type 1 or AMPD1, is a human metabolic disorder in which the body consistently lacks the enzyme AMP deaminase, [1] in sufficient quantities. This may result in exercise intolerance, muscle pain and muscle cramping. The disease was formerly known as myoadenylate deaminase deficiency (MADD).
Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), [1] is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia. [2] [3] The disorder presents in the early neonatal period with poor feeding, vomiting, lethargy, and lack of muscle tone. [4]
For amino acid metabolism, methylmalonyl-CoA mutase works in the degradation pathways of isoleucine, threonine, valine, and methionine. These amino acids are degraded into propanoyl-CoA which is then further degraded into (S)-methylmalonyl-CoA. This substrate must be further metabolized by a very similar enzyme, methylmalonyl-CoA epimerase ...
Depression affects around 14.8 million adults in the U.S. That?s around 7 percent of the entire population aged 18 and over.
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency or MCADD) is a disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA. The disorder is characterized by hypoglycemia and sudden death without timely intervention, most often brought on by periods of fasting or vomiting.