Aromatic-l-amino acid decarboxylase (AADC) deficiency is an ultra-rare inherited autosomal
recessive disorder characterized by sharply reduced synthesis of dopamine as well as other …

Tetrahydrobiopterin (BH 4) deficiency is caused by genetic variants in the three genes
involved in de novo cofactor biosynthesis, GTP cyclohydrolase I (GTPCH/GCH1), 6-pyruvoyl …

Phosphoglucomutase 1 (PGM1) encodes the metabolic enzyme that interconverts glucose-6-
P and glucose-1-P. Mutations in PGM1 cause impairment in glycogen metabolism and …

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive
genetic disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine …

Purpose The nature of phenylalanine hydroxylase (PAH) variants determines residual
enzyme activity, which modifies the clinical phenotype in phenylketonuria (PKU). We …

Abstract ALG9-CDG is a CDG-I defect within the group of Congenital Disorders of
Glycosylation (CDG). We here describe the clinical symptoms of two new and unrelated …

Background Autosomal recessive mutations in DNAJC12, encoding a cochaperone of
HSP70 with hitherto unknown function, were recently described to lead to …

Abstract Objective Citrullinemia type 1 (CTLN1) is an inherited metabolic disease affecting
the brain which is detectable by newborn screening. The clinical spectrum is highly variable …

Residual phenylalanine hydroxylase (PAH) activity is the main determinant of the metabolic
phenotype in phenylketonuria (PKU). The genotypic heterogeneity of PKU, involving> 1000 …

PMM2-CDG is the most common defect among the congenital disorders of glycosylation. In
order to investigate the effect of hypoglycosylation on important cellular pathways, we …