Elevated propionyl C3 carnitine is the most common abnormality seen in tandem mass spectrometry newborn screening profiles, with an incidence of 0.15% seen in our South Australian newborn screening programme. The most common cause for this result in our population is vitamin B12 deficiency but differential diagnoses include the inherited disorders of propionic and methylmalonic acid metabolism ...

This is described as autosomal recessive inherited syndrome. Primary (genetic) defects in the structure and function of sensory and motile cilia result in multiple ciliopathies. A reduction in the number of arms which propel mucus (dynein arms) is a common abnormality but many other structural defects of the cilia have been found. Patients with normal cilia morphology but abnormal mucus propuls...

It has been suggested that a form of inherited dystonia responsive to levodopa might be due to an abnormality of tyrosine hydroxylase gene. This hypothesis has been tested using a cDNA tyrosine hydroxylase gene probe in three families with this disorder. No evidence for genetic linkage between the disease and tyrosine hydroxylase loci was found; it is possible that the disorder results from a p...

V. NEEL, M.D., PH.D. T HIS REPORT deals with a new inherited abnormality of hemoglobin encountered in American Negroes. The existence of this traitcame to light ill the course of extensive clinical and genetic studies u’egarding the sickling pheuiomenon. Among the individuals examined thei’e were anumber of patients ‘it-h a hemolytic syndrome associated with erythrocytic sickling in whom neithe...

IN a previous paper (Ede & Rogers, 1964) a method was described for obtaining lines of the beetle Dermestes maculatus in which a large proportion of eggs produced specific abnormalities which could be used in investigations into its embryology. One of these abnormalities, type G, occurred in high frequency (up to 70 per cent) in a selected line, and was therefore particularly suitable for furth...

Seven members of a family affected by hereditary antithrombin III deficiency were identified. The disorder was associated with recurrent spontaneous episodes of phlebitis, deep venous thrombosis, and pulmonary embolism in middle age. Danazol, a 17-alkyl derivative of ethinyl testosterone, which has been used to treat other antiprotease deficiency states, was assessed in the management of two me...

We determined the prevalence of hyperhomocyst(e)inemia before and 4 hours after a methionine load (3.8 g/m2) in 80 patients (25 mean and 55 women) who had had at least one verified episode of venous thromboembolism before the age of 40 years and in 51 healthy control subjects. No patient had any of the hemostatic abnormalities known to be associated with increased risk of venous thrombosis, and...

Mental retardation is a common problem with major implications for a nation’s health, education and community services. The causes of mental retardation have been found to have a definite etiological basis, which may be biochemical, chromosomal, Mendelian genetic disorders, or due to environmental effects such as toxins, infections, trauma or perinatal anoxia. The underlying causes remain unkno...

A 49-year-old woman, suffering from peripheral vascular disease, was found to have two lipoprotein abnormalities, namely, type III hyperlipoproteinaemia and sinking prebeta lipoprotein. Twenty-one members of the kindred were investigated in an attempt to determine the pattern of inheritance of both of these abnormalities. In a 21-year-old son of the proband plasma electrophoresis was in keeping...