Metabolism of Tryptophan and its clinical significance
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Amino acid metabolism
Metabolism and significance of Glycine
Glycine, a non-essential amino acid, has vital metabolic roles, including serving as a constituent of collagen, a one-carbon donor, and a precursor for purine nucleotides, bile salts, and heme. Clinically, defects in glycine metabolism can lead to conditions like hyperoxaluria, nonketotic hyperglycinemia, and glycinuria, contributing to significant health implications such as oxalate stone formation and neurological disorders.
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“Vitamin Deficiencies in Amino Acid Metabolism: Biochemical Impacts and Pathways”
“Discover how vitamin deficiencies disrupt amino acid metabolism. This detailed guide explains impaired reactions, enzymes affected, and consequences, emphasizing the biochemical role of B6, B1, B9, B12, and biotin in critical pathways.”
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Summary of Amino acid disorders with easy recall mnemonics
Disorder Defective Enzyme/Transporter Clinical Picture Mnemonic Phenylketonuria (PKU) Phenylalanine hydroxylase Musty body odor, intellectual disability, seizures, pale skin, eczema Pale kids with Krappy Urine Alkaptonuria Homogentisic acid oxidase Black urine, ochronosis (bluish-black pigmentation in connective tissues), arthritis Black CAP: Cartilage, Arthritis, Pigmentation Maple Syrup Urine Disease (MSUD) Branched-chain α-ketoacid dehydrogenase Sweet-smelling urine, poor feeding,
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