Metabolic diseases (human): Difference between revisions

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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.
'''Human metabolic diseases''' are primarily caused by single gene alleles that code for enzymes important in metabolic pathways. These diseases areordinarily  life-long and incurable, 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. Cures for some of these diseases have been explored through gene therapy and [[organ transplant (human)| organ transplant]]. Accordingly, in amny countries, newborn infants are screened for these diseases so that, if present, modifications in diet may start immediately. Since the metaboloc diseases are (generally) inherited, those individual who have them, or who have biological children who have them, are advised to seek [[genetic counseling]] to learn the risks of passing the disease, and how to best manage the metabolic defects in those who have them.




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.
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.





Revision as of 10:36, 5 June 2007

Human metabolic diseases are primarily caused by single gene alleles that code for enzymes important in metabolic pathways. These diseases areordinarily life-long and incurable, 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. Cures for some of these diseases have been explored through gene therapy and organ transplant. Accordingly, in amny countries, newborn infants are screened for these diseases so that, if present, modifications in diet may start immediately. Since the metaboloc diseases are (generally) inherited, those individual who have them, or who have biological children who have them, are advised to seek genetic counseling to learn the risks of passing the disease, and how to best manage the metabolic defects in those who have them.


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