Alkaptonuria

An autosomal recessive disease, in which there is reduced activity of homogentisic acid oxidase, so that homogentisic acid cannot be metabolised. Ochronosis (the presence of brown black pigment), which is caused by abnormal accumulation of oxidised homogentisic acid, occurs in skin, connective tissue, and cartilage, including the cardiac valves. 1. The urine becomes dark, from homogentisic aciduria, after exposure to air or alkali.There is bluish discoloration of nails, auricles and axillae,...

Info

Aspiration of gastric contents achalasia of oesophagus 3, 4 arthrogryposis multiplex congenita 52, 53 CHARGE association 97 Cockayne syndrome 107 cri du chat syndrome 111 dermatomyositis polymyositis complex 126 dystrophia myotonica 150 epidermolysis bullosa 171 Fabry's disease 182 Gaucher's disease 203 Huntington's disease 250 motor neurone disease 331 nemaline myopathy 350 obese patients 362 Opitz-Frias syndrome 370 Prader-Willi syndrome 414 preeclampsia eclampsia 158,160 Riley-Day syndrome...

Amyloidosis

Amyloidosis is a general term for a variety of different disease processes involving the deposition of fibrillary material in tissues.This is formed of protein subunits sharing a common beta-pleated sheet structure, but derived from proteins of great chemical diversity. These fibrils are resistant to normal proteolytic digestion and share a common histochemical staining property to Congo red. In the light of advances in the understanding of the structural chemistry of amyloid, the disease is...