Luckily with screening, this autosomal recessive disease is caught early. Initially, neonates are asymptomatic, but as they start taking in breast milk or standard infant formula, they begin to have developmental delay. Ultimately, they can have moderate-severe mental retardation. Brain imaging shows white matter lesions. A quarter of patients may have epilepsy. Other findings include abnormalities of gait, sitting posture, and stance as well as hyperactivity. Skin findings include light pigmentation and eczema. The body and urine can sometimes have a "mousy" odor.
Challenge: What disease is described here?
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Phenylketonuria!
ReplyDeleteIt is Phenylketonuria
ReplyDeletePKU
ReplyDeletePhenylketonuria, caused by phenylalanine hydroxylase deficiency.
ReplyDeleteThanks so much for doing these cases every week. They are fantastic!!
sorry for the delay!
ReplyDelete-
Screening
This is PKU or phenylketonuria from a deficiency of phenylalanine hydroxylase.
Source: UpToDate.