Protein metabolism: one-carbon metabolism, inborn errors of amino acid metabolism
Biochemistry · MBBS
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Study notes
Newborn screening flags high phenylalanine; the baby is started on special formula. This is PKU (phenylketonuria) — phenylalanine hydroxylase is missing, so phenylalanine can't become tyrosine; it accumulates and its byproducts poison the developing brain (severe intellectual disability, musty odor). Caught by the heel-prick test on day 2–3, a strict low-phenylalanine diet from birth prevents damage — the child grows up normal. It is the triumph of newborn screening: a devastating disease neutralized by diet, but only if caught early.
Related topics
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- Biomolecules: lipids — structure, classification, lipoproteins
- Biomolecules: proteins — structure, classification, amino acids
- Biomolecules: nucleotides, nucleic acids, DNA structure
- Enzymes: kinetics, inhibition, regulation, clinical enzymology
- Bioenergetics: electron transport chain, oxidative phosphorylation