Metabolic diseases (human)

Human metabolic diseases are primarily caused by single gene alleles that code for enzymes important in metabolic pathways. These diseases are usually life-long, but many of them can be managed such that the person who has such a metabolic defect may remain well if strict modifications in diet are followed. Accordingly, in amny countries, newborn infants are screned for these diseases so that, if present, modifications in diet may start immediately.

In 1902, Archibald E Garrod proposed that the disease alcaptonuria had a recessive mode of transmission. Dr.Garrod had mapped out pedigrees of affected individuals and showed that the occurance of the disease followed Gregor Mendel's principles. This was the first report of a connection had been between a human disease and Mendel's laws of inheritance.

References

Urban M. Early observations of genetic diseases. [Historical Article. Journal Article] Lancet. 354 Suppl:SIV21, 1999 Dec. UI: 10691432