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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy
Aycan Ünalp1, Melis Köse2, Pakize Karaoğlu3
1Department of Pediatrics, Division of Pediatric Neurology, University of Health Sciences Turkey, İzmir Faculty of Medicine, İzmir, Turkey.
Background:
Hypomyelinating leukodystrophy-14 (HLD14) is a rarely seen neurodevelopmental disease caused by homozygous pathogenic ubiquitin-fold modifier 1 gene variants. The disease has an autosomal recessive inheritance. All patients with this condition reported to date have drug-resistant epilepsy. The posttranslational modification of proteins with ubiquitin fold modifier 1 is defective in these patients and is thought to be responsible for severe neurodevelopmental problems. There is no previous report on the effectiveness of the ketogenic diet in the treatment of drug-resistant epileptic seizures in this disease. Therefore, we present a pediatric case diagnosed with HLD14 and whose drug-resistant epileptic seizures were controlled by ketogenic diet therapy.
Case:
The patient was a three-year-old male with drug-resistant epilepsy and developmental delay. His brain magnetic resonance imaging revealed cerebellar atrophy, periventricular white matter hypomyelination, and ventricular enlargement. Whole-exome sequencing analysis identified a homozygous pathogenic variant in the ubiquitin-fold modifier 1 gene on chromosome 13q13. Ketogenic diet therapy was initiated for his drug-resistant seizures and subsequently reduced seizure frequency by more than 75%. The patient is still on ketogenic diet therapy.
Conclusions:
Ketogenic diet therapy may be beneficial for seizure control in HLD14 patients with drug-resistant seizures.
Insights
Hypomyelinating leukodystrophy-14 (HLD14), a rare neurodevelopmental disorder, is linked to UFM1 gene variants. Ketogenic diet therapy effectively controlled drug-resistant epilepsy in a pediatric HLD14 patient.
Area of Science:
- Genetics
- Neurology
- Metabolic Disorders
Background:
- Hypomyelinating leukodystrophy-14 (HLD14) is a rare autosomal recessive neurodevelopmental disorder.
- It is caused by homozygous pathogenic variants in the ubiquitin-fold modifier 1 (UFM1) gene.
- Patients typically present with drug-resistant epilepsy and impaired protein posttranslational modification.
Observation:
- A 3-year-old male diagnosed with HLD14 presented with drug-resistant epilepsy and developmental delay.
- Brain MRI showed cerebellar atrophy, periventricular white matter hypomyelination, and ventricular enlargement.
- Genetic analysis revealed a homozygous pathogenic UFM1 gene variant.
Findings:
- Ketogenic diet therapy was initiated for the patient's intractable seizures.
- The therapy resulted in a >75% reduction in seizure frequency.
- The patient continues to benefit from ketogenic diet therapy.
Implications:
- This case suggests that ketogenic diet therapy may be a viable treatment option for seizure control in HLD14.
- Further research is warranted to explore the efficacy of dietary interventions in HLD14.
- This highlights the importance of considering metabolic and dietary approaches in managing rare genetic epilepsies.
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