Vitamin B6 is present in our diet in many forms, however, only pyridoxal 5′‐phosphate
(PLP) can function as a cofactor for enzymes. The intestine absorbs nonphosphorylated B6 …

Malformations of cortical development encompass heterogeneous groups of structural brain
anomalies associated with complex neurodevelopmental disorders and diverse genetic and …

Background Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic
encephalopathy caused by antiquitin (ALDH7A1) deficiency. In spite of adequate seizure …

Background Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an inborn error of lysine
catabolism that presents with refractory epilepsy in newborns. Biallelic ALDH7A1 variants …

Pyridoxine-dependent epilepsy (PDE) is an epileptic encephalopathy characterized by
response to pharmacologic doses of pyridoxine. PDE is caused by deficiency of α …

Deficiency of antiquitin (ATQ), an enzyme involved in lysine degradation, is the major cause
of vitamin B6‐dependent epilepsy. Accumulation of the potentially neurotoxic α‐aminoadipic …

The steps from patient evaluation to genetic diagnosis remain complicated. We discuss
some of the genetic testing methods available along with their general advantages and …

Background: Seventy-five percent of patients with pyridoxine-dependent epilepsy (PDE) due
to Antiquitin (ATQ) deficiency suffer from developmental delay and/or intellectual disability …

Lysine, as an essential amino acid, predominantly undergoes metabolic processes through
the saccharopine pathway, whereas a smaller fraction follows the pipecolic acid pathway …

The measurements of lysine metabolites provide valuable information for the rapid
diagnosis of pyridoxine-dependent epilepsy (PDE). Here, we aimed to develop a sensitive …