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genetic ACID
- ... been identified in affected individuals. Most of these genetic changes alter single amino acids in aminomethyltransferase. Other mutations delete genetic material from ...
- Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats into energy, particularly during ...
- Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly ...
- ... D, Heubi JE, Setchell KD, Russell DW. Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. J Clin Endocrinol Metab. ...
- ... amino acid) in the plectin protein. Specifically, this genetic change replaces the amino acid arginine with the amino acid tryptophan at protein ...
- ... this condition. More About This Health Condition MedlinePlus ... branched chain keto acid dehydrogenase complex) dihydrolipoyl dehydrogenase DLDH DLDH_HUMAN E3 ...
- ... been identified in affected individuals. Many of these genetic changes alter single amino acids in glycine dehydrogenase. Other mutations insert or delete ...
- Genetic Disorders/Reference Desk ... Genetic Disorders ... Genetic Testing/Reference Desk ... Genetic Testing ... Genes and Gene Therapy/Reference Desk ... Genes and Gene Therapy
- ... mutation appears to be responsible for harderoporphyria; this genetic change replaces the amino acid glycine with the amino acid glutamic acid at ...
- The SLC7A9 gene provides instructions for producing one part (subunit) of a protein made primarily in the kidneys. This subunit joins with another protein ...