No abstract

A new device for estimation of hydrogen in expired air is described. The measuring principle consists of a semi-conductive detector with a high affinity for hydrogen. Experiments on reliability and reproducibility are satisfactory. A good correlation has been obtained with the results of gas chromatographic analysis of hydrogen in reference gases as well as in samples of expired air. Discrimination between lactose absorbers and lactose malabsorbers in 50 consecutive patients is the same when using both methods simultaneously. This so-called "Lactoscreen", supplied with separate collection systems for infants and for older children, provides a rapid estimation of breath hydrogen concentration. A built-in hydrogen generator produces hydrogen air mixtures of variable concentrations, thus obviating the need for external reference gases. The "Lactoscreen" appears to be reliable for routine screening for carbohydrate malabsorption in children and adults and is easy for medical assistants to handle.

The frequency of a false negative hydrogen breath test was higher than previously reported, but this does not affect the superiority of this method of testing over the conventional blood glucose determination.

No abstract

A 4.5-year-old male patient is described with chorioretinopathy, minor facial anomalies, delayed closure of the fontanel, mental retardation, moderate hypotonia, epilepsy and hepatic fibrosis. Postural control, intentional vocalising and manual dexterity were superior to the performance of patients with classical Zellweger syndrome (ZS). Morphologically distinct peroxisomes were absent in the liver. In blood elevated pipecolic acid levels and abnormal levels of bile acid intermediates were found. The plasmalogen content of erythrocytes was normal. In fibroblasts we found an accumulation of very long chain fatty acids, decreased activity of acyl CoA:dihydroxyacetone phosphate acyltransferase, and impaired de novo biosynthesis of plasmalogens. On the basis of these clinical, ultrastructural and biochemical characteristics we assume that this patient represents a milder variant of the classical cerebro-hepato-renal syndrome of Zellweger.