Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach

Hyperphenylalaninemia is a biomarker for several monogenic neurotransmitter disorders where the body cannot metabolise phenylalanine to tyrosine. Biallelic pathogenic variants in DNAJC12, co-chaperone of phenylalanine, tyrosine, and tryptophan hydroxylases, leads to hyperphenylalaninemia and biogenic amines deficiency.

Source: Brain and Development - May 6, 2023 Category: Neurology Authors: Rachel Sze Hui Wong, Shekeeb Mohammad, Bindu Parayil Sankaran, Rosie Junek, Won-Tae Kim, Tiffany Wotton, Sushil Bandodkar, Shanti Balasubramaniam Tags: Case Report Source Type: research