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CAD mutations and uridine-responsive epileptic encephalopathy.

Johannes Koch¹, Johannes A Mayr², Bader Alhaddad³

¹Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.

Brain : a Journal of Neurology

|December 24, 2016

Summary

Genetic mutations in the CAD gene cause a severe developmental disorder with epilepsy and anemia. Oral uridine supplementation effectively treats this condition, offering a new therapeutic approach for affected children.

Keywords:

anaemia anisopoikilocytosis epilepsy global developmental delay uridine

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Area of Science:

Biochemistry
Genetics
Neurology

Background:

Unexplained global developmental delay and epilepsy in childhood represent a significant socioeconomic challenge.
Effective treatments for rare neurometabolic disorders are often lacking, despite advances in molecular diagnostics.
Inborn errors of metabolism treatable by dietary intervention are notable exceptions.

Purpose of the Study:

To identify the genetic cause of a severe neurometabolic disorder characterized by global developmental delay, epileptic encephalopathy, and anemia.
To investigate the therapeutic potential of uridine supplementation in patients with identified genetic defects.

Main Methods:

Exome sequencing was performed on three families with affected children.
Genetic variants were identified and correlated with clinical phenotypes.
The efficacy of oral uridine supplementation was assessed in surviving patients.

Main Results:

Biallelic mutations in the CAD gene were identified in four children presenting with global developmental delay, epileptic encephalopathy, and dyserythropoietic anemia.
Two affected children experienced a fatal neurodegenerative course.
Uridine supplementation led to immediate seizure cessation and significant developmental improvements in the surviving children, with normalization of blood smears and resolution of anemia.

Conclusions:

CAD deficiency is a treatable neurometabolic disorder characterized by global developmental delay, anemia, and seizures.
Uridine supplementation represents a highly effective treatment, significantly improving neurological and hematological parameters.
CAD deficiency is a potential candidate for inclusion in future newborn screening programs due to its treatable nature.