🧪 General Principles🟢 BasicInborn Errors of Metabolism

Inborn Errors of Metabolism

Inherited enzyme defects that block a step in the body's chemistry, so harmful substances build up or vital products run short.

Key points

Inborn errors of metabolism are inherited faults in single enzymes, so a step in the body's chemistry is blocked.
The harm comes from a build-up of the substance before the block, or from a shortage of the product after it.
Phenylketonuria is a classic example, where phenylalanine builds up and, if untreated, harms the developing brain.
Galactosaemia (a problem handling milk sugar) and maple syrup urine disease are other examples that present in the newborn.
Newborn screening tests for several of these so that an early diet or treatment can prevent the damage.

Memory trick

Inborn errors of metabolism are inherited single-enzyme blocks: harm from build-up before the block or shortage after; phenylketonuria (phenylalanine harms the brain), galactosaemia, maple syrup urine disease; newborn screening catches them early.

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🧪 General Principles🟢 BasicInborn Errors of Metabolism

Inborn Errors of Metabolism

Inherited enzyme defects that block a step in the body's chemistry, so harmful substances build up or vital products run short.

Key points

Inborn errors of metabolism are inherited faults in single enzymes, so a step in the body's chemistry is blocked.
The harm comes from a build-up of the substance before the block, or from a shortage of the product after it.
Phenylketonuria is a classic example, where phenylalanine builds up and, if untreated, harms the developing brain.
Galactosaemia (a problem handling milk sugar) and maple syrup urine disease are other examples that present in the newborn.
Newborn screening tests for several of these so that an early diet or treatment can prevent the damage.

Memory trick

All of Pediatrics More General Principles