Diagnosis and management of glutaric aciduria type I – revised recommendations

Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury which results from encephalopathic crises precipitated by infectious diseases, immunizations and surgery during a finite period of brain development, or develops insidiously without clinically apparent crises. Glutaric aciduria type I is caused by inherited deficiency of glutaryl-CoA dehydrogenase which is involved in the catabolic pathways of L-lysine, L-hydroxylysine and L-tryptophan. This defect gives rise to elevated glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine which can be detected by gas chromatography/mass spectrometry (organic acids) or tandem mass spectrometry (acylcarnitines). Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Metabolic treatment that includes a low lysine diet, carnitine supplementation and intensified emergency treatment during acute episodes of intercurrent illness should be introduced and monitored by an experienced interdisciplinary team. However, initiation of treatment after the onset of symptoms is generally not effective in preventing permanent damage. Secondary dystonia is often difficult to treat, and the efficacy of available drugs cannot be predicted precisely in individual patients. The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline

Blacks and the family cap: pregnancy, abortion, and spillovers

Family cap, Abortion, Welfare reform, J13, I38, J18,

Compositional Changes in Foliage Phenolics with Plant Age, a Natural Experiment in Boreal Forests

The composition of plant secondary metabolites (PSMs) extensively impacts ecosystem functioning. It is vital that we understand temporal patterns in the plants’ allocation of resources to PSMs, particularly those influenced by human activity. Existing data are insufficient in the long-term perspective of perennial plants (age or ontogeny). We analysed phenolic concentrations in foliage from birch (Betula pubescens Ehr.) considered to be undamaged and growing on 5, 10 and 15 years old clear-cuts in two boreal forest landscapes in Norway, sampled at the peak of the growing season. In sum, low molecular weight phenolic concentrations decreased with age. Apart from one apigenin glycoside, the low molecular weight phenolics co-varied similarly at all ages, suggesting a lack of temporal compound-specific prioritisation of this group. In contrast, the concentration of MeOH-soluble condensed tannins increased with age. The compositional shift fits well with several hypotheses that may provide proximate explanations for age patterns in PSM allocations, including both resource constraints and external pressures. Regardless of these explanations, our study adds an important perennial perspective (plant age) to temporal PSM patterns already well-known in boreal plant phenology (foliage age).publishedVersio