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Question: Inborn Error

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Which of the following genetic metabolic disorders can mimic non-accidental trauma?

pemsou5_wp • July 28, 2020

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  1. Kelly July 28, 2020 - 11:19 am Reply

    B) Glutaric acidemia, type 1
    Glutaric acidemia, type 1, is caused by deficiency of glutaryl-CoA dehydrogenase. It typically presents in the first 2 years of life with acute onset encephalopathy, movement disorder, and macrocephaly. There can be bilateral frontotemporal atrophy and/or widening of the Sylvian fissure. The cerebral atrophy and elongated bridging veins results in easy rupture of the veins, leading to subdural hematomas. Retinal hemorrhages have also been reported. Patients with glutaric acidemia are not at increased risk of fractures, however, and subdural hematomas in the absence of frontotemporal atrophy is not consistent with glutaric acidemia.

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