Template:Neonatal terms: Difference between revisions
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* '''{{Guthrie test}}''' - neonatal blood screening test detecting markers for a variety of known disorders (phenylketonuria (PKU), hypothyroidism, {{maple syrup urine disease}}, and cystic fibrosis). | * '''{{Guthrie test}}''' - neonatal blood screening test detecting markers for a variety of known disorders (phenylketonuria (PKU), hypothyroidism, {{maple syrup urine disease}}, and cystic fibrosis). | ||
* '''{{maple syrup urine disease}}''' - ({{MSUD}}) metabolic disorder, clinical features include mental and physical retardation, feeding problems, and a maple syrup odour to the urine. The urine effects are due to the presence of keto acids of the branched-chain amino acids (branched-chain keto acid dehydrogenase enzyme subunits). | * '''{{maple syrup urine disease}}''' - ({{MSUD}}) metabolic disorder, clinical features include mental and physical retardation, feeding problems, and a maple syrup odour to the urine. The urine effects are due to the presence of keto acids of the branched-chain amino acids (branched-chain keto acid dehydrogenase enzyme subunits). {{ICD-11}} {{ICD11weblink}}1623706568 5C50.D0 Maple-syrup-urine disease] | ||
{{ICD-11}} {{ICD11weblink}}1623706568 5C50.D0 Maple-syrup-urine disease] | |||
* '''Medium-Chain Acyl-CoA Dehydrogenase Deficiency''' - (MCAD) metabolic disorder, most common inherited disorder of mitochondrial fatty acid oxidation in people from northern Europe, intolerance to prolonged fasting and an inability to generate energy during periods of increased energy demand and can be severe to fatal in infants. | * '''Medium-Chain Acyl-CoA Dehydrogenase Deficiency''' - (MCAD) metabolic disorder, most common inherited disorder of mitochondrial fatty acid oxidation in people from northern Europe, intolerance to prolonged fasting and an inability to generate energy during periods of increased energy demand and can be severe to fatal in infants. |
Latest revision as of 16:25, 26 March 2019
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