Title |
Chronic management and health supervision of individuals with propionic acidemia
|
---|---|
Published in |
Molecular Genetics & Metabolism, September 2011
|
DOI | 10.1016/j.ymgme.2011.08.034 |
Pubmed ID | |
Authors |
V. Reid Sutton, Kimberly A. Chapman, Andrea L. Gropman, Erin MacLeod, Kathy Stagni, Marshall L. Summar, Keiko Ueda, Nicholas Ah Mew, Jill Franks, Eddie Island, Dietrich Matern, Loren Peña, Brittany Smith, Tina Urv, Charles Venditti, Anupam Chakarapani |
Abstract |
Propionic acidemia is a relatively rare inborn error of metabolism. Individuals with propionic acidemia often have life-threatening episodes of hyperammonemia and metabolic acidosis, as well as intellectual disability. There are many reports of additional problems, including poor growth, stroke-like episodes of the basal ganglia, seizures, cardiomyopathy, long QTc syndrome, immune defects, pancreatitis and optic neuropathy; however, there is little information about the incidence of these problems in this rare disease. Additionally, there are no clear guidelines for medical or surgical management of individuals with propionic acidemia. Through a comprehensive and systematic review of the current medical literature and survey of expert opinion, we have developed practice guidelines for the chronic management of individuals with propionic acidemia, including dietary therapy, use of medications, laboratory monitoring, chronic health supervision, use of gastrostomy tubes and liver transplantation. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Japan | 1 | <1% |
Spain | 1 | <1% |
Germany | 1 | <1% |
Korea, Republic of | 1 | <1% |
Unknown | 103 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 17 | 16% |
Other | 14 | 13% |
Student > Ph. D. Student | 12 | 11% |
Student > Bachelor | 9 | 8% |
Professor > Associate Professor | 8 | 7% |
Other | 28 | 26% |
Unknown | 19 | 18% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 37 | 35% |
Biochemistry, Genetics and Molecular Biology | 8 | 7% |
Agricultural and Biological Sciences | 8 | 7% |
Chemistry | 5 | 5% |
Pharmacology, Toxicology and Pharmaceutical Science | 5 | 5% |
Other | 18 | 17% |
Unknown | 26 | 24% |