A 45-month-old child who had bitemporal arachnoid cysts and macrocephaly unrelated to glutaric aciduria type 1 (GA 1) was reported. The patient was admitted to the emergency unit after head trauma at 11 months of age. CT and MRI showed bitemporal arachnoid cysts (BACs). Acylcarnitine profile was normal in serum using tandem mass spectrometry. Urine and blood screening tests were within normal r...

BACKGROUND Glutaric aciduria type I (GA-I) is a rare metabolic disorder caused by inherited deficiency of glutaryl-CoA dehydrogenase. Despite high prognostic relevance of early diagnosis and start of metabolic treatment as well as an additional cost saving potential later in life, only a limited number of countries recommend newborn screening for GA-I. So far only limited data is available enab...

Patients affected by inborn errors of metabolism can develop catastrophic epilepsies ineligible for resective surgery. Few reports concerning vagal nerve stimulation in patients with epileptic encephalopathy in the context of metabolic diseases have been published in the literature. Drug-resistant epilepsies in metabolic disease could be a specific target for vagal nerve stimulation, although t...

Inborn errors of metabolism (IEMs) are a large class of genetic disorders characterized by disruption of cellular biochemical functions. Although individual IEMs are rare, collectively they represent a large and diverse class of genetic conditions, with new disorders and disease mechanisms being described regularly. Advances in the understanding of the molecular and biochemical etiologies of ma...

AIMS To study retrospectively the effects of treatment and the clinical outcome in 12 patients with glutaric aciduria type 1; and to compare the outcome in 6 patients diagnosed as a result of family screening with 6 patients who were diagnosed late after symptomatic presentation. SETTING The National Centre for Inherited Metabolic Disorders, The Children's Hospital, Dublin, Ireland. RESULT ...