Ketoaciduria Research Paper
Review
Branched-chain Ketoaciduria (Maple Syrup Urine Disease), and Its Effect on the Breakdown of Amino Acids in the Human Body
David Holkesvik
INTRODUCTION: Branched-chain ketoaciduria, more commonly known as Maple syrup urine disease (MSUD) is a metabolic disorder that causes toxic buildup of un-broken down branched-chain amino acids or ketoacids. Passed on autosomal recessively, mutations in specific genes hinder or stop the enzyme complex responsible for normal breakdown of three amino acids found in protein-rich foods from working. The buildup of these toxic ketoacids leads to brain damage and eventually death in the affected infant if left untreated (Ogier de Baulny and Saudubray 2002). Although relatively rare in the general …show more content…
However if an affected child is not diagnosed within 7-10 days coma, and central respiratory failure is imminent. Since all diagnoses are made on newborn children finding of this genetic disease relies on completely on physical irregularities. The most obvious way to tell is by the smell of the infant’s urine which has a distinct sweet smell (hence maple syrup urine disease) due to the excess amount of ketoacids in the urine (Pasquali and Marzia. 2011). The sweet smell in the urine is usually detectable 12 hours after birth and is the first sign the child is affected. Another, perhaps more modern, method of diagnosis is testing plasma for elevated concentrations of branched-chain amino acids (leucine, isoleucine, and valine) using quantitative plasma amino acid analysis. This technique simply compares the ratios of the three possibly affected amino acids to other essential and non-essential amino acids and look for irregularities. The elevated levels of leucine, isoleucine, and valine are detectable 12-24 hours after birth (Hallam et al. 2005). If the infant is left untreated, the physical ramification of the acute leucinemia (leucine poisoning) and ketonuria (ketoacid poisoning) can cause vomiting, dehydration, lethargy, seizures, pancreatitis, coma, and eventually
Branched-chain Ketoaciduria (Maple Syrup Urine Disease), and Its Effect on the Breakdown of Amino Acids in the Human Body
David Holkesvik
INTRODUCTION: Branched-chain ketoaciduria, more commonly known as Maple syrup urine disease (MSUD) is a metabolic disorder that causes toxic buildup of un-broken down branched-chain amino acids or ketoacids. Passed on autosomal recessively, mutations in specific genes hinder or stop the enzyme complex responsible for normal breakdown of three amino acids found in protein-rich foods from working. The buildup of these toxic ketoacids leads to brain damage and eventually death in the affected infant if left untreated (Ogier de Baulny and Saudubray 2002). Although relatively rare in the general …show more content…
However if an affected child is not diagnosed within 7-10 days coma, and central respiratory failure is imminent. Since all diagnoses are made on newborn children finding of this genetic disease relies on completely on physical irregularities. The most obvious way to tell is by the smell of the infant’s urine which has a distinct sweet smell (hence maple syrup urine disease) due to the excess amount of ketoacids in the urine (Pasquali and Marzia. 2011). The sweet smell in the urine is usually detectable 12 hours after birth and is the first sign the child is affected. Another, perhaps more modern, method of diagnosis is testing plasma for elevated concentrations of branched-chain amino acids (leucine, isoleucine, and valine) using quantitative plasma amino acid analysis. This technique simply compares the ratios of the three possibly affected amino acids to other essential and non-essential amino acids and look for irregularities. The elevated levels of leucine, isoleucine, and valine are detectable 12-24 hours after birth (Hallam et al. 2005). If the infant is left untreated, the physical ramification of the acute leucinemia (leucine poisoning) and ketonuria (ketoacid poisoning) can cause vomiting, dehydration, lethargy, seizures, pancreatitis, coma, and eventually