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News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… Steven Benowitz … Many "medical foods" are designed to help manage patients with rare inborn errors of metabolism (IEMs), and can help prevent serious and … disorders of organic acid metabolism, results from a deficiency of enzymes involved in amino acid metabolism. …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… The porphyrias are a group of different diseases, each caused by a specific abnormality … The essential functions of heme depend on its ability to bind oxygen. Heme is incorporated into hemoglobin, a … on which enzyme is deficient. Porphyria results in a deficiency or inactivity of a specific enzyme in the heme …
Educational Resources
A birth defect is an abnormality present at birth.
… factors, prenatal events during pregnancy or a combination of both. Some birth defects are easy to see (such as an extra or missing finger), while others (such as an enzyme deficiency) are identified through special tests. … A birth …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… Research points to the effects of nutrients in how DNA mutates in the mitochondria. … In a … make it harder to absorb vitamin B12, mimicking a vitamin deficiency. All the mice, however, were on strictly …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… a clinical researcher in the Inflammatory Disease Section of the Medical Genetics Branch at the National Human Genome … Center and Saint Louis University. In 2010, she moved to Bethesda, Maryland in pursuit of research experience. … decipher the complex and potentially devastating disease, deficiency of adenosine deaminase 2. She has also worked in …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… M.D. … Dr. Stone attended medical school at the University of Florida College of Medicine. She completed her pediatrics … in the discovery of the genetic etiology of DADA2 (deficiency of ADA2), DIRA (deficiency of the interleukin … pyoderma gangrenosum, and acne), a condition difficult to treat in some severely affected individuals. She …
Educational Resources
Congenital conditions are those present from birth.
… Newborn Screening, Genetics, Pregnancy … Congenital refers to a condition or trait that exists at birth. Congenital … occurring during pregnancy or at birth, or they may be due to a combination of these factors. … Congenital conditions are those present …
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
… 2021, Dr. Rossignol has been teaching the Inborn Errors of Metabolism course offered by the Foundation for Advanced … of unknown etiology and collaborates with scientists to identify new conditions or expand the phenotypic … Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… byproduct stored in the lysosomes (recycling centers) of macrophages (clean-up cells of the immune system). In … with GD, this enzyme does not function correctly, leading to a buildup of that byproduct. The macrophages malfunction … months of life. There is generally no effective treatment due to the severe brain involvement and inability of current …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… genital ulcers, as well as vision destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix of genetic and …