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Inborn Errors

more about Inborn Errors


  • At times, called genetic diseases, but it should only refer to those genetic diseases where a proper chemical reaction is lacking.
  • Inborn errors of metabolism


  • A basic defect of the body's chemistry at the cellular level, present in the fetus and possibly producing symptoms as early as the neonatal period
  • The body utilizes three sources of energy: sugars (carbohydrates); fats (lipids); and proteins (the building blocks of which are called amino acids).  These 3 energy sources are dis-assembled and re-assembled in the body, in the process of undergoing many chemical reactions.
  • The three major categories of inborn errors of metabolism correspond with the three sources of energy:
    1. Sugar
    2. Fat
    3. Protein
  • Inborn errors of metabolism can also refer to a basic defect in the chemical reactions that rid the body of waste products, after energy is produced.

  • Many of the inborn errors share symptoms of poor feeding, vomiting, Dehydration, unconsciousness, slow mental development, and Seizures.
  • Galactosemia (a disease of carbohydrate metabolism): vomiting, jaundice (yellow color to the skin), enlarged liver, Diarrhea, Cataracts
  • Tay-Sachs disease (a disease of fat metabolism): an abnormal red spot on the macula of the retina, seen with the doctor's ophthalmoscope.  The macula is the part of the retina that is meant to have the sharpest vision.  Tay-Sachs patients often develop blindness and mental retardation.
  • Maple syrup urine disease (a disease of protein metabolism): poor feeding, vomiting, unconsciousness, and/or Seizures

  • Usually, a necessary enzyme is lacking, or present in sub-optimal amounts.
  • This means that a body substance (which is intended to be converted into another biochemical product), builds up in large amounts.  This body substance either remains present in large amounts (causing a toxicity), or goes down an alternate chemical pathway, creating an unintended product.
  • The unintended product might be toxic, or the lack of the intended product may cause toxicity.

  • Tests for many enzyme deficiencies can be done on blood, urine, or human tissue samples.
  • Most of the states in the United States test for some but not all inborn errors, by collecting a few drops of blood after sticking the heel of each baby in a hospital nursery, and running "screening tests."  These blood tests are run in a state laboratory.  Unfortunately, the tests do not catch every single baby with an inborn error of metabolism.  Some of the tests depend on a baby's taking breast milk or formula for a certain number of days before collecting the blood, and the baby might go home before that.
  • Galactosemia: Testing of red blood cells shows a low level of an enzyme that reacts with a certain sugar.  A special kind of urine test shows galactose is present in the urine. Galactose is not normally in urine.
  • Tay-Sachs disease: Testing of blood or body tissue shows a low level of an enzyme that is important in fat chemistry.  The red spot in the retina is due to a buildup of a particular fat that is supposed to be broken-down into another product.  The red spot is not proof of Tay-Sachs disease, though.
  • Maple syrup urine disease: measurement of amino acids (protein building blocks) in the blood shows 3 of them are present in larger than normal amounts.  The urine typically smells like maple syrup.

  • Heredity (familial tendency)

  • For underlying causes in:
    1. Galactosemia
    2. Tay-Sachs disease
    3. Maple syrup urine disease

  • Many, but not all, of the inborn errors have complications of developmental delay or mental retardation, Failure to Thrive, slow weight gain, slow gain in height, vomiting, Dehydration, repeated hospitalizations for Dehydration and loss of consciousness.

  • The symptoms of poor feeding, vomiting, Dehydration, unconsciousness, slow mental development, or Seizures need to be brought to the attention of a physician urgently, since inborn errors of metabolism are quite serious.
  • It is especially important to ask your physician to test for these kinds of diseases if: (1) similar symptoms have occurred in children who are relatives of this patient, or (2) the patient is in the first year of life, since the most damage can occur in the first few months or first year.

  • The inborn errors do not all share the same symptoms or characteristics, but basically an enzyme is missing in the body chemistry, and the lack of enzyme tends to run in certain families.
  • Some of the inborn errors are similar to diseases that run in families, have a potential for slow infant development, and are characterized by infant feeding difficulties (hypothyroidism) or episodes of Dehydration in infancy (infants with diabetes).




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