Disorders of Tetrahydrobiopterin Metabolism: Experience from South India.
Somdattaa RayHansashree PadmanabhaVykuntaraju K GowdaRohan MahaleRita ChristopherShruthy SreedharanDebjyoti DharMahesh KamateMadhu NagappaMaya BhatRammurthy AnjanappaGautham ArunachalM PoojaP S MathuranathS R ChandraPublished in: Metabolic brain disease (2022)
Tetrahydrobiopterin deficiencies represent a rare yet potentially treatable cause for non-phenylketonuria hyperphenylalaninemia with better outcomes when treated early in life. Screening for disorders of biopterin metabolism in patients with hyperphenylalaninemia prevents delayed diagnosis. This study expands the genotype-phenotype spectrum of patients with disorders of tetrahydrobiopterin metabolism from South India.
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