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Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical … … Phenylketonuria (PKU) is an inherited disorder of metabolism that causes an increase in the blood of a chemical … … Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called … disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called … disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… to help manage patients with rare inborn errors of metabolism (IEMs), and can help prevent serious and … isoleucine, methionine and threonine). In the other, cobalamin C (cblC) type combined MMA and … of the University of Iowa Hospitals and Clinics. In the cobalamin C (cblC) deficiency study, which is the focus of …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… molecules and pathways that influence skeletal growth and metabolism in general,” he said. In a conversation with …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… seeks to identify and understand inherited disorders of metabolism and of human development. MGB investigators focus … on human genetics, vertebrate embryology, inborn errors of metabolism, and neurogenetic disorders. … Projects performed … The Medical Genetics Branch studies inherited disorders of metabolism and of human development. … The Medical Genetics …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… and implementation of medical nutrition therapy in MMA and cobalamin C deficiency, which resulted in the re-evaluation … spectrum of inborn errors in the propionate oxidation and intracellular cobalamin metabolism, and the discovery of new genes in these pathways, …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… three years as an attending physician in Genetics and Metabolism at Valley Children’s Hospital in Madera, …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.