A child with delayed milestones, musty body odour ,fair skin and blue eyes despite dark haired parents and elevated phenylalanine levels in blood.
Hint: its detected in newborn screening panels
Name the condition
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Phenylketonuria (PKU), a genetic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase, leading to toxic buildup of phenylalanine.
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Pku
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PKU screening was the first ever test started as newborn screening (NBS). Thus NBS is also called PKU screening. In the USA, newborn screening is done on all newborn babies and this helps identify 40+ diseases, typically PKU, Galactosemia, Hypothyroidism, Cystic Fibrosis, Thalassemia, Sickle, CAH and so many other inborn errors of metabolism.
#Neonatology
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Phenylketonuria , a genetic disease caused by high phenylalanines in blood stream, causing mousy odour and major cognitive disturbances, there is development delay and seizures also in such babies.
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Phenylketonuria
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Disease - Phenylketonuria
Cause - deficiency of enzyme phenylalanine hydroxylase whose role is to convert phenylalanine to tyrosine
Trick to identify - 4Fs
Fair : fair skin , blue eyes
Fragile development : delayed milestones
Funky smelling : musty body odour
Found in newborn screening : elevated phenylalanine levels in blood
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