Template:Neonatal terms: Difference between revisions
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* '''congenital hypothyroidism''' - (CH) Neonates born with this disorder typically have a normal appearance and no detectable physical signs. Thyroid hormone is required for normal postnatal neural (cognitive) development with newborn screening and thyroid therapy able to be begun within 2 weeks of birth. {{thyroid}} | * '''congenital hypothyroidism''' - (CH) Neonates born with this disorder typically have a normal appearance and no detectable physical signs. Thyroid hormone is required for normal postnatal neural (cognitive) development with newborn screening and thyroid therapy able to be begun within 2 weeks of birth. {{thyroid}} | ||
* '''{{Guthrie test}}''' - neonatal blood screening test detecting markers for a variety of known disorders (phenylketonuria (PKU), hypothyroidism 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] | |||
* '''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. |
Revision as of 16:24, 26 March 2019
Neonatal Terms | ||
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ICD-11 5C50.D0 Maple-syrup-urine disease
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