A mother and her son who have lipoprotein phenotype I are described. They differed from subjects with lipoprotein lipase deficiency in that lipoprotein lipase was present in adipose tissue respectively at 30- and 2-fold the levels seen in normal subjects, and from subjects with apoprotein C-II deficiency in that apoprotein C-II was present in their plasma. They appeared to have an inhibitor to ...

Cataract, defined as opacity of the lens in one or both eyes, is a major cause of blindness throughout the world, and not uncommon, particularly in the elderly population. However, congenital cataracts are rare and occur with a frequency of 30 cases in 100,000 births. About one-third of the cases fall into the group inherited without systemic abnormality. Importantly, congenital cataracts produ...

1. The major collagen fraction of skin, which in vivo consists of tropocollagen molecules aggregated into extracellular fibres, has been extracted from forty-nine normal subjects and nineteen patients with inherited and acquired disorders of connective tissue. 2. In normal subjects the chemical stability of this fraction progressively increased up to the age of 60. 3. This fraction was less sta...

Congenital anomaly (CA) can be defined as any abnormality present at birth, particularly a structural one which may be inherited genetically, acquired during the period of gestation or inflicted during parturition [1]. It covers a wide spectrum of structural dismorphism ranging from relatively minor problem with no serious medical or cosmetic consequence to major anomalies with exceptionally po...

A sudden unexplained death is felt to be due to a primary arrhythmic disorder when no structural heart disease is found on autopsy, and there is no preceding documentation of heart disease. In these cases, death is presumed to be secondary to a lethal and potentially heritable abnormality of cardiac ion channel function. These channelopathies include congenital long QT syndrome, catecholaminerg...

A sibship of a brother and sister with congenital bilateral pseudoglioma is described. The most prominent abnormality was a greyish-white vascularised mass in the retrolental spaces, which was noted as early as the first weeks of life. Corneal opacities, posterior synechiae, and complicated cataracts developed within 1 to 2 years age. The sibship showed normal chromosomes and had no systemic di...

© 2003 Blackwell Science Ltd nalling and apoptosis (programmed cell death), and they have a crucial role in metabolism. Many metabolic enzyme systems are contained within mitochondria, including components of tricarboxylic acid (Krebs) cycle enzymes, and the fatty acid β-oxidation pathway. However, the term ‘mitochondrial disorder’ usually refers to a primary abnormality of the mitochondrial re...

F6LLING [1934] discovered that, in certain cases of mental deficiency, phenylpyruvic acid was excreted in the urine. His attention was drawn to the phenomenon by the characteristic colour produced by the addition of ferric chloride solution to the urines of these patients, and he identified the responsible substance as phenylpyruvic acid. Other cases have since been recognized [Penrose, 1935]. ...

The kidney plays a critical role in regulating water homeostasis through specific proteins highly expressed in the kidney, called aquaporins, allowing water permeation at a high rate. This brief review focuses on some nephropathies associated with impaired urinary concentrating ability and in particular analyzes the role of aquaporin 2 in hypercalciuria, the most common metabolic abnormality in...

A family with a platelet release abnormality (PRA) is described. The only son also showed a reduced rate of platelet aggregation in response to ristocetin, markedly reduced levels of von Willebrand's factor (vWf, ristocetin cofactor), and increased mobility of factor VIII-like antigen, features which were suggestive of von Willebrand's disease (vWd). No inhibition of vWf was found in his plasma...