ADSL Deficiency - The Lesser-Known Metabolic Epilepsy in Infancy.

Indian J Pediatr

Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Published: March 2021

Adenylosuccinate lyase deficiency is a rare inherited disorder of purine metabolism causing severe neurological impairment ranging from early-onset neonatal epileptic encephalopathy to progressive psychomotor retardation and autism in later life. Diagnostic workup involves the measurement of toxic succinyl purines in body fluids and gene sequencing. The authors describe a 13-mo-old girl with compound heterozygous variants in the ADSL gene, presenting as early-onset seizures, severe neurological impairment, development delay, and hypotonia. Neuroimaging revealed cerebral atrophy, delayed myelination and diffusion restriction in bilateral basal ganglia, thalamus and periventricular white matter. The present case highlights ADSL deficiency as a rare cause of metabolic epilepsy that needs timely recognition and prevention of unnecessary investigations.

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http://dx.doi.org/10.1007/s12098-020-03435-4DOI Listing

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Article Synopsis
  • Adenylosuccinate lyase (ADSL) deficiency is a rare inherited metabolic disorder categorized into three types, with the study focusing on the clinical and electroclinical characteristics of patients.
  • Seven previously unreported patients were followed for 10 to 34 years, and a literature review compiled 81 cases, revealing that the majority of patients experience type I deficiency, with epilepsy being a common symptom.
  • EEG findings showed distinctive patterns like poor background organization and specific seizure types, while imaging consistently indicated cerebral and cerebellar atrophy, highlighting the need for better understanding and management of this disorder.
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Adenylosuccinate lyase deficiency affects neurobehavior via perturbations to tyramine signaling in Caenorhabditis elegans.

PLoS Genet

September 2023

Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, Pennsylvania, United States of America.

Adenylosuccinate lyase deficiency is an ultrarare congenital metabolic disorder associated with muscle weakness and neurobehavioral dysfunction. Adenylosuccinate lyase is required for de novo purine biosynthesis, acting twice in the pathway at non-sequential steps. Genetic models can contribute to our understanding of the etiology of disease phenotypes and pave the way for development of therapeutic treatments.

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A Caenorhabditis elegans model of adenylosuccinate lyase deficiency reveals neuromuscular and reproductive phenotypes of distinct etiology.

Mol Genet Metab

November 2023

Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA 16802, USA. Electronic address:

Inborn errors of purine metabolism are rare syndromes with an array of complex phenotypes in humans. One such disorder, adenylosuccinate lyase deficiency (ASLD), is caused by a decrease in the activity of the bi-functional purine biosynthetic enzyme adenylosuccinate lyase (ADSL). Mutations in human ADSL cause epilepsy, muscle ataxia, and autistic-like symptoms.

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Background: Adenylosuccinate lyase (ADSL) deficiency is a rare autosomal-recessive defect of purine metabolism caused by mutation of the gene. It can cause severe neurological impairment and diverse clinical manifestations, including epilepsy.

Case Summary: Here, we describe a 3-year-old Chinese boy who had both psychomotor retardation and refractory epilepsy.

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Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post-mortem examination showed an unusual vacuolar appearance of the brain.

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