Newborn Metabolic Errors

Many diseases develop over a long period, either due to outside effects on the body or slow changes in the interior physiology. The second case of this series is an example of the opposite situation: a disease that appears rapidly at birth. What kind of disease is this, and how are they evaluated? The case: A 5-day old child, born 6 weeks premature, was lethargic with difficult breathing. He had required breathing support for his first 3 days of life, but standard treatments with surfactant let him breathe normally thereafter. During his fifth day, he went from normal breathing to being completely dependent on machine ventilation; he also had a seizure that was stopped with phenobarbital.

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Metabolic Errors

Source: ADVANCED

Art and Science of Laboratory Medicine

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