Prenatal Diagnosis of Disorders of Carbohydrate Metabolism

Bali, Deeksha; Austin, Stephanie; Chen, Yuan-Tsong

doi:10.1002/9781118981559.ch24

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Gsd Types Ia and Ib1

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2021

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“…Additionally, patients may have a bleeding dysfunction similar to that of von Willebrand disease, which manifests as easy bleeding, menorrhagia, and excessive bleeding during surgical procedures 47 . GSD type Ib is another subtype that is caused by a defect in glucose-6-phosphate exchanger 48 .…”

Section: Gsd Types Ia and Ibmentioning

confidence: 99%

Orthopaedic Manifestations of Inborn Errors of Metabolism

2021

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Inborn errors of metabolism are disorders of carbohydrate, amino acid, organic acid, or purine and pyrimidine metabolism; disorders of fatty acid oxidation; disorders of metal metabolism; and lysosomal storage defects that can cause metabolic derangements that have secondary musculoskeletal effects.Orthopaedic surgeons should be aware that patients with inborn errors of metabolism may be at high risk for spasticity, which may cause joint subluxations, scoliosis, and contractures, as well as poor bone quality, which is caused by malnutrition or disordered bone growth.Multidisciplinary care and follow-up are important to identify musculoskeletal problems in a timely manner in order to provide effective treatment.

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Section: Gsd Types Ia and Ibmentioning

confidence: 99%