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

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

OBJECTIVE: To evaluate the efficacy and safety of dietary lysine restriction as an adjunct to
pyridoxine therapy on biochemical parameters, seizure control, and developmental …

Objective To evaluate the impact of sodium benzoate and dextromethorphan treatment on
patients with the attenuated form of nonketotic hyperglycinemia. Study design Families were …

Muscle, heart and liver were analyzed in a male subject who succumbed to HSD10 disease.
Respiratory chain enzyme analysis and BN-PAGE showed reduced activities and assembly …

PURPOSE: Cystinuria, an inherited defect of dibasic amino acid transport, causes
accumulation of urinary cystine and cystine urolithiasis. In adults penicillamine reduces …

Purpose In response to genetic testing being widely ordered by nongenetics clinicians, the
Consent and Disclosure Recommendations (CADRe) Workgroup of the Clinical Genome …

One of the most vital elements of management for patients with inborn errors of intermediary
metabolism is the promotion of anabolism, the state in which the body builds new …

Abstract The National Institutes of Health (NIH) established the Rare Diseases Clinical
Research Network to address the unique challenges of performing research on rare …

Background Seventy-five percent of patients with pyridoxine-dependent epilepsy due to α-
aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) suffer intellectual …