Although inborn errors of metabolism are rarely found to be the cause of epilepsy, seizures are a frequent symptom in metabolic disorders. In a few of these, epilepsy responds to specific treatment by diet or supplementation. However, in most, no such treatment is available and conventional antiepileptic drugs must be used, often with no great success. However, because uncontrolled epilepsy wil...

By their very nature, rare inborn errors of metabolism challenge the generation and application of evidence-based medicine. • On the basis of limited research evidence as well as consensus, newborn screening for select metabolic disorders, including phenylketonuria, medium-chain acyl CoA dehydrogenase deficiency, and glutaric acidemia type I, may improve long-term outcomes for affected children...

Epilepsies associated with inborn errors of metabolism (IEM) represent a major challenge. Seizures rarely dominate the clinical presentation, which is more frequently associated with other neurological symptoms, such as hypotonia and/or cognitive disturbances. Although epilepsy in IEM can be classified in various ways according to pathogenesis, age of onset, or electroclinical presentation, the...

Glutathione is a tripeptide composed of glutamate, cysteine and glycine. Glutathione is present in millimolar concentrations in most mammalian cells and it is involved in several fundamental biological functions, including free radical scavenging, detoxification of xenobiotics and carcinogens, redox reactions, biosynthesis of DNA, proteins and leukotrienes, as well as neurotransmission/neuromod...

Bile acids are synthesized by the liver from cholesterol through a complex series of reactions involving at least 14 enzymatic steps. A failure to perform any of these reactions will block bile acid production with failure to produce ‘‘normal bile acids’’ and, instead, result in the accumulation of unusual bile acids and intermediary metabolites. Failure to synthesize bile acids leads to reduce...

In 1927 Archibald Garrod presented the Huxley Lecture at Charing Cross Hospital Out of this lecture emerged the concept of an “inborn error of metabolism” whereby an inherited defect may lead to the accumulation in cells or body fluids of a metabolite which in itself may predispose to disease. The disorders cited as examples were all adult onset disorders. Today there are over 200 known inborn ...

The method of isotropic photorefraction has been used in a trial of refractive screening of 6-9 month old infants. Data are presented on the calibration of the method against retinoscopic measurements and its reliability. In photorefractive screening of 1096 infants under cyclopentolate cycloplegia 5% were found to be hypermetropic (over +3.5 D), 4.5% myopic, and 1.3% anisometropic (over 1 D). ...

The detection of refractive errors includes effective screening programmes in the school or community. However, the lack of human and other resources often prevent such programmes from occurring. Therefore, patients with many conditions, both refractive and nonrefractive, present at clinics. The separation of these patients into refractive and non-refractive conditions is important in the good ...

Gaps in communication between medical officers and poor planning are associated with prescribing errors and may result in patient harm. This study describes medication communication on post-take ward rounds (PTWR). Over 6 weeks on 24 PTWR, 130 patients, prescribed 1244 medications, were observed. Of these, 811 (65%) medications were discussed, with 249 discussions (relating to 126 medications) ...