l-Proline concentration is primarily related to the balance of enzymatic activities of proline dehydrogenase [proline oxidase (POX)] and Delta-1-pyrroline-5-carboxylate (P5C) reductase. As a result, P5C plays a pivotal role in maintaining the concentration of proline in body fluids and inborn errors of P5C metabolism lead to disturbance of proline metabolism. Several inborn errors of proline me...

structural lipid and a precursor molecule for bile acid and steroid hormone synthesis. In addition, this ubiquitous lipid is now known to contribute fundamentally to the development and function of the CNS and the bones, and, as detailed in other articles in this Perspective series, it plays major roles in signal transduction, sperm development, and embryonic morphogenesis. Over the past decade...

Garrod,4 in I908, introduced the term ' inborn errors of metabolism' to describe biochemical abnormalities which were genetically determined, present throughout life and relatively non-lethal. He suggested that it would ultimately be possible to attribute the biochemical aberrations found in these conditions to specific enzyme defects. Recent work5 has confirmed the validity of Garrod's ideas t...

I T is my intent to gather together facts pertaming to the lipidoses which might serve to focus on current problems and to call attention to possible therapeutic approaches. The particular lipidoses to be discussed involve the accumulation in tissues of sphingolipids and may be referred to as sphingolipidoses. They may be classified as “inborn errors of sphingolipid metabolism” on the basis tha...

This retrospective, exploratory investigation examined the types of target words that 30 children with word-finding difficulties (aged 8 to 12 years) had difficulty naming and the types of errors they made on these words. Words were studied with reference to lexical factors that might influence naming performance: word frequency, age of acquisition, familiarity, and lexical neighborhood. Findin...

We briefly describe the circularity/non-independence problem, and our perception of the impact the ensuing discussion has had on fMRI research.

Whilst some locative verbs alternate between the ground- and figure-locative constructions (e.g. Lisa sprayed the flowers with water/Lisa sprayed water onto the flowers), others are restricted to one construction or the other (e.g. *Lisa filled water into the cup/*Lisa poured the cup with water). The present study investigated two proposals for how learners (aged 5-6, 9-10 and adults) acquire t...

Y-branch optical waveguides are analyzed in terms of normalized parameters by means of the usual modal analysis. With these parameters the number of variables of the problem is reduced, and universal plots for the mode conversion are obtained. Our results show that the normalized parameters are useful for the design of branching waveguides more tolerant of fabrication errors.