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Inborn Errors of Metabolism Causing Epilepsy

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Inborn Errors of Metabolism Causing Epilepsy DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY REVIEW Inborn errors of metabolism causing epilepsy SHAMIMA RAHMAN | EMMA J FOOTITT | SOPHIA VARADKAR | PETER T CLAYTON Clinical and Molecular Genetics and Neurosciences Units, University College London Institute of Child Health, London and Metabolic and Neurosciences Units, Great Ormond Street Hospital for Children NHS Trust, London, UK. Correspondence to Shamima Rahman at Clinical and Molecular Genetics Unit, University College London Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK. E-mail: [email protected] PUBLICATION DATA Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), Accepted for publication 14th June 2012. for example in a neonate with pyridoxine-dependent epilepsy. In other IEMs, seizures may be pre- Published online 24th September 2012. ceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive weakness, ataxia, and upper motor ABBREVIATIONS signs in a child with a lysosomal storage disorder or peroxisomal leukodystrophy. This review CoQ10 Coenzyme Q10 concentrates on those IEMs for which specific treatment is available. The common metabolic GAMT Guanidinoacetate methyl transferase causes of seizures vary according to the age at presentation. Features from the history, IEM Inborn error of metabolism examination, imaging, and first line biochemical investigations can all provide clues to an inborn MoCoF Molybdenum cofactor error. This review attempts to delineate these and to provide a guide to the specific tests that can NCL Neuronal ceroid lipofuscinosis be used to make the diagnosis of disorders with specific treatment. PDE Pyridoxine-dependent epilepsy PLP Pyridoxal 5¢-phosphate PNPO Pyridox(am)ine 5¢-phosphate oxidase SUOX Sulphite oxidase Inborn errors of metabolism (IEMs) are a relatively infrequent reported in more than 200 different IEMs, and seizures are a cause of epilepsy, but their recognition is of paramount impor- relatively common reason for referral to the metabolic paedi- tance because many of these conditions are treatable, particu- atrician or biochemical geneticist. Furthermore, although larly those presenting in the neonatal period and in early IEMs are rarely the cause of epilepsy, it is important to infancy. Many biochemical and genetic investigations are recognize and diagnose this group of disorders, since they requested by practising clinicians because of the imperative of may be treatable, and there are significant implications for not missing a treatable cause of the early onset epileptic genetic counselling. encephalopathies. This review is timely because the genetic The classification of metabolic epilepsies is difficult. basis of several treatable metabolic epilepsies has been estab- Seizures may be characterized by their semiology and electro- lished in recent years, and experimental treatments are being encephalographic (EEG) features, although epilepsies in IEMs developed and trialled in some conditions that were previously are associated with multiple, usually generalized, seizure types. considered to be untreatable. These treatments include vita- The most recent International League Against Epilepsy Com- min supplementation, provision of alternative substrates (to mission on Classification and Terminology proposes ‘struc- bypass a block), and dietary manipulation. tural ⁄ metabolic’ as an aetiology group for conditions or An epileptic seizure has been defined by the International diseases that have been demonstrated to be associated with a League Against Epilepsy and International Bureau for substantially increased risk of developing epilepsy, including Epilepsy as a ‘transient occurrence of signs and ⁄ or symptoms disorders of genetic origin.3 A more practical way of consider- due to abnormal excessive or synchronous neuronal activity ing the metabolic epilepsies is by age at presentation (Table I), in the brain’.1 The same groups defined epilepsy as ‘a disor- and in this review we consider those epilepsies that present in der of the brain characterized by an enduring predisposition the neonatal period and first 6 months of life; those that more to generate epileptic seizures and by the neurobiological, often present in late infancy and early childhood; and, finally, cognitive, psychological, and social consequences of this con- metabolic epilepsies presenting in later childhood and dition’. Although epilepsy is common, affecting at least 0.5% adolescence. There is, of course, considerable overlap between of the population,2 the precise prevalence of metabolic epi- these groups. We recently reviewed mitochondrial epilepsies lepsies is unknown, but they are likely to represent a small in a companion article in this journal,4 and so will not discuss minority of all causes of epilepsy. However, seizures are a them in great detail here, but will indicate which mitochon- frequent symptom in metabolic disease, having been drial epilepsies may present at particular ages. ª The Authors. Developmental Medicine & Child Neurology ª 2012 Mac Keith Press DOI: 10.1111/j.1469-8749.2012.04406.x 23 PATHOGENESIS What this paper adds The large number of IEMs associated with epilepsy may be • This paper provides a concise summary of the major inborn errors of metabolism explained by the plethora of different disease mechanisms that (IEMs) which may present with epilepsy, categorized by age at presentation. may trigger seizures. In some patients electrolyte disturbance • An overview of key clinical, biochemical, and genetic diagnostic features to aid may lead to seizure generation, particularly in disorders associ- differential diagnosis is presented. • Most importantly, this article emphasizes the treatable IEMs causing epilepsy ated with hyponatraemia, hypocalcaemia, or hypomagnesa- and provides information about appropriate medications, doses, and routes of emia. In other cases seizures may occur at times of acute administration. metabolic decompensation due to hypoglycaemia (e.g. fat oxi- dation disorders, glycogen storage diseases, and disorders of should always suggest careful consideration of an IEM. gluconeogenesis) or hyperammonaemia (e.g. urea cycle dis- Abnormal intrauterine movements (fluttering or hiccoughs) orders or organic acidaemias). Other pathogenic mechanisms can also be a pointer to a metabolic disorder. associated with seizure generation include deficiency of a vita- min or cofactor (such as pyridoxal phosphate, 5-methyltetra- Treatable disorders hydrofolate, biotin, or coenzyme Q10 [CoQ10]), cerebral Pyridoxine-dependent epilepsy energy deficiency (as in glucose transporter defects, disorders Pyridoxine-dependent epilepsy (PDE) due to antiquitin defi- of creatine biosynthesis or transport, and mitochondrial respi- ciency (a-amino adipic semialdehyde [a-AASA] dehydrogenase ratory chain deficiencies), chemical disruption of neurotrans- deficiency; OMIM 266100) is an inborn error of lysine catabo- mission (ion channel disorders and defects of neurotransmitter lism that results in a secondary deficiency of vitamin B6 due to synthesis or recycling), or physical disruption of neural net- adduct formation between D1-piperideine-6-carboxylate and works as a result of brain malformations or IEMs with cerebral pyridoxal 5¢-phosphate (PLP), the active form of vitamin B6 in accumulation of abnormal storage material. Finally, seizures humans.5,6 Patients with this disorder typically present in the may be triggered by direct neurotoxicity of accumulating first days of life with a severe seizure disorder that is resistant intermediates, as in untreated phenylketonuria. to treatment with conventional anticonvulsant medications but responsive to treatment with pyridoxine. Often the infant EPILEPTIC ENCEPHALOPATHY PRESENTING IN THE is in poor condition at delivery and the seizure disorder may NEONATAL PERIOD AND EARLY INFANCY be accompanied by multisystem symptomatology such as met- Seizures occur in 1 in 1000 live births, and the most common abolic acidosis, electrolyte disturbance, abdominal distension, cause is hypoxic–ischaemic encephalopathy. However, some and feed intolerance, resulting in misdiagnosis as hypoxic–is- newborn infants are in a poor condition at birth because they chaemic encephalopathy or sepsis.7 Frequent multifocal and have an underlying inborn error of metabolism so, if seizures generalized myoclonic jerks are observed in PDE, often inter- are persistent and difficult to treat with conventional mixed with tonic symptoms, abnormal eye movement, grimac- antiepileptic drugs (AEDs), the neonatologist should consider ing, or irritability.8 whether hypoxic–ischaemic encephalopathy is the primary Although in most instances PDE responds quickly and problem or whether there could be an underlying IEM. Clini- completely to pyridoxine, any child with a resistant epileptic cally, a semiology of infantile spasms or myoclonic seizures, encephalopathy should undergo an adequate treatment trial or, electrographically, hypsarrhythmia or burst suppression, of vitamin B6 (see recommended doses below) accompanied Table I: Classification of metabolic epilepsies according to age at presentation Neonatal period to early infancy Late infancy to early childhood Late childhood to adolescence PDE Creatine synthesis defects CoQ10 deficiency PNPO deficiency Infantile and late infantile NCL Lafora body and Unverricht–Lundborg disease Folinic acid responsive seizures Mitochondrial disorders (Alpers MERRF
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