Fabry disease usually becomes clinically manifest in childhood. Renal involvement can begin in adolescence. The diagnosis is made following a high level of suspicion or systematic pedigree analysis. It is crucial for paediatric Fabry disease patients to have early access to optimal supportive symptomatic management. Enzyme replacement therapy has shown promising effectiveness in adults. Considering its widespread therapeutic and potential preventive benefits, enzyme replacement therapy should be initiated at an early stage, prior to the onset of irreversible complications.

Anderson-Fabry disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal alpha-galactosidase A. Clinical manifestations of Anderson-Fabry disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson-Fabry disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular disease, and gastrointestinal and heart problems. It therefore appears that Anderson-Fabry disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant disease.

A co-operative taxonomic study has been performed on slowly growing nonpigmented mycobacteria (Run yon's group 111). Phenetic data on 89 strains, studied in 18 laboratories, were collected and analysed by a numerical taxonomic method. A variety of immunological properties, lipid analyses and measures of pathogenicity were analysed independently to establish correlation with numerical classification. Mycobacterium gastri, M . nonchromogenicum, M . terrae, M . avium and M . xenopi were recognized by almost all participants as distinct species. Mycobacterium novum was considered to be synonymous with M . terrae. A clearcut distinction could not be made between M . avium and M. intracellulare; the majority of participants in the study recommend that M . intracellulare be reduced to a synonym of M . avium. A minority of authors cannot agree with this proposal.

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