Inborn errors of amino acid metabolism are individually rare but collectively represent significant causes of mortality and morbidity in the Pediatric population. The most comprehensive information source for these disorders list over 100 known disorders of amino acid metabolism. Hoever, the rarity of each individual disorder has hempered our understanding of these diseases. Indeed, many of the disorders are defined by fewer than 100 published cases. Their very rarity means that each patient should be evaluated in such a way that we not only meet the medical needs of the patient, but also further delineate and understand the natural history of these diseases.

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
2M01RR000052-39
Application #
6411980
Study Section
Special Emphasis Panel (ZRR1)
Project Start
1975-10-01
Project End
2004-11-30
Budget Start
Budget End
Support Year
39
Fiscal Year
2000
Total Cost
Indirect Cost
Name
Johns Hopkins University
Department
Type
DUNS #
045911138
City
Baltimore
State
MD
Country
United States
Zip Code
21218
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