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3 Cards in this Set
- Front
- Back
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what presentations should raise suspicion of an inborn error of metabolism?
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Unexplained cardiorespiratory collapse
Acute encephalopathy Acute liver failure Hypoglycaemia Metabolic acidosis (± ketosis) Lactic acidaemia Hyperammonaemia. |
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what is the mendelian inheritance pattern of most inborn errors of metabolism?
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usually autosomal recessive
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what features on history are particularly important when suspecting a metabolic disorder?
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family history, including stillbirths. consanguinity. intercurrent illness. dietary history, especially fasting or changes to diet.
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