Main clinical features
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infantile cataract, skin abnormalities, glutamate excess, and profound developmental delay
recurrent dermatologic abnormalities characterized as erythematic subcutaneous nodule; histopathologic analysis of these lesions showed deep perivascular and periglandular lymphohistiocytic infiltrates
cerebrospinal fluid and plasma levels of glutamate and glutamine were unaffected
brain MRI showed delayed myelination; analyses of stored urine samples similarly showed low concentrations of glutamine and high concentrations of glutamate |