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3039 Unknown

A term born 6-month-old, lethargic blonde infant, presented with multiple episodes of vomiting, poor feeding, convulsions and severe psychomotor retardation. O/E: – Microcephaly with prominent maxillae and widely spaced teeth Blue iris Seborrheic or eczematoid rash Spasticity, hyperreflexia, and tremor Musty odour of urine MRI brain All of the following statements are true about the disease except: –

AMay be caused due to the deficiency of cofactor tetrahydrobiopterin BH4
BTandem mass spectrometry is useful in the diagnosis.
CThe complications can't be prevented by restricting the use of the involved amino acid in diet.
DPegvaliase can be given in adults suffering from this.
Unknown
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