Over the last decades, advances in clinical care for patients suffering from propionic acidemia
(PA) and isolated methylmalonic acidemia (MMA) have resulted in improved survival. …

Over the last few years, various inborn disorders have been reported in the malate aspartate
shuttle (MAS). The MAS consists of four metabolic enzymes and two transporters, one of …

Importance The impact of betaine treatment on outcome in patients with severe
methylenetetrahydrofolate reductase (MTHFR) deficiency is presently unclear. Objective To …

Purpose: This study investigated whole-exome sequencing (WES) yield in a subset of
intellectually disabled patients referred to our clinical diagnostic center and calculated the total …

d-Amino acids are increasingly being recognized as important signaling molecules in mammals,
including humans. d-Serine and d-aspartate are believed to act as signaling molecules …

Background Amino acidopathies are a class of inborn errors of metabolism (IEM) that can
be diagnosed by analysis of amino acids (AA) in plasma. Current strategies for AA analysis …

Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes
of the L-serine biosynthesis pathway. Serine deficiency disorders give rise to a neurological …

Purpose: To describe the pattern of magnetic resonance (MR) imaging abnormalities in l-2-hydroxyglutaric
aciduria (L2HGA) and to evaluate the correlation between imaging …

Ketoacidosis is a potentially lethal condition caused by the imbalance between hepatic
production and extrahepatic utilization of ketone bodies. We performed exome sequencing in a …

Munc13 proteins are essential regulators of neurotransmitter release at nerve cell synapses.
They mediate the priming step that renders synaptic vesicles fusion-competent, and their …