Hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency; complete HPRT deficiency (Lesh-Nyhan Syndrome) presenting with severe neurological or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. We r...

I is required for the synthesis of thyroid hormones. These hormones, in turn, are required for brain development, which occurs during fetal and early postnatal life. The present paper reviews the impact of I deficiency (1) on thyroid function during pregnancy and in the neonate, and (2) on the intellectual development of infants and children. All extents of I deficiency (based on I intake (micr...

Out of a total capital expenditure of Regional Hospital Boards on hospital services during the financial year 1954-55, a sum representing 30.2 per cent, was allocated to mental and mental deficiency hospitals (compared to 22 per cent, for the period 1948-55). The percentage allocated for this purpose by individual Regional Boards varied from 52 per cent. (Oxford) to 16.2 per cent. (Manchester)....

almost directly after the Mental Deficiency Act came into force in 1914. One of their main objects was the co-ordination of all public and voluntary work undertaken for defectives in their own homes, throughout the area, covered by a Local Authority under the Mental Deficiency Act, i.e., a County or County Borough. The Constitution of these Associations varies according to Local conditions but ...

Ornithine transcarbamylase (OTC) deficiency is well known for its diagnosis in the neonatal period. Presentation often occurs after protein feeding and manifests as poor oral intake, vomiting, lethargy progressing to seizure, respiratory difficulty, and eventually coma. Presentation at adulthood is rare (and likely underdiagnosed); however, OTC deficiency can be life-threatening and requires pr...

Iodine deficiency remains a global concern for developing countries and some industrialised countries. Iodine deficiency is the most common cause of preventable mental retardation, posing a threat to the social and economic development of countries. Initiatives were developed and instituted to accelerate progress to achieve the goal of universal salt iodisation (USI). However, these efforts wer...