1. Orthopaedic Problems in 35 Patients With Organic Acid Disorders
- Author
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Caleb Gottlich, Niyathi Prasad, Paul D. Sponseller, Ada Hamosh, and Derek T. Nhan
- Subjects
Adult ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Pediatrics ,medicine.medical_specialty ,Propionic Acidemia ,Movement disorders ,Adolescent ,Osteoporosis ,Population ,Glutaric aciduria type 1 ,03 medical and health sciences ,0302 clinical medicine ,Maple Syrup Urine Disease ,medicine ,Humans ,Orthopedics and Sports Medicine ,Child ,education ,Amino Acid Metabolism, Inborn Errors ,Pyruvate Dehydrogenase Complex Deficiency Disease ,Retrospective Studies ,030222 orthopedics ,education.field_of_study ,Glutaryl-CoA Dehydrogenase ,Brain Diseases, Metabolic ,business.industry ,Maple syrup urine disease ,General Medicine ,Middle Aged ,medicine.disease ,Osteopenia ,Orthopedics ,Methylmalonic aciduria ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Orthopedic surgery ,Female ,medicine.symptom ,business - Abstract
Introduction Organic acid disorders (OADs) are a subset of inborn errors of metabolism that result in a toxic accumulation of organic acids in the body, which can lead to metabolic derangements and encephalopathy. Patients with these disorders are managed by a team of biochemical geneticists and metabolic nutritionists. However, subspecialists such as neurologists and orthopaedic surgeons are often needed to help manage the sequelae of the metabolic derangements. The breadth of orthopaedic sequelae of these disease states is poorly understood. Herein, we describe orthopaedic problems associated with 5 types of OAD most commonly seen at our institution: maple syrup urine disease, methylmalonic aciduria, propionic aciduria, pyruvate dehydrogenase deficiency, and glutaric aciduria type 1. Methods We retrospectively reviewed medical records of 35 patients with an OAD who were seen at our academic tertiary care center from May 1999 to May 2020. Patients were grouped into cohorts according to OAD type and analyzed for orthopaedic presentations of hip, knee, or foot disorders, presence and severity of scoliosis, history of fracture, movement disorders, and osteopenia/osteoporosis. Results Of the 35 patients, 13 had maple syrup urine disease, 12 had methylmalonic aciduria, 4 had propionic aciduria, 4 had pyruvate dehydrogenase deficiency, and 2 had glutaric aciduria type 1. Associated orthopaedic problems included spasticity causing neuromuscular scoliosis and/or hip subluxation or dislocation (10 patients), fractures (7 patients), and osteopenia/osteoporosis (7 patients). Overall, 22 of 35 patients had some orthopaedic condition. Conclusions Most in this cohort of patients with OAD also had an orthopaedic abnormality. It is important for physicians treating these patients to understand their propensity for musculoskeletal problems. When treating patients with OAD, it is important to initiate and maintain communication with specialists in several disciplines and to develop collaborative treatments for this unique population. Level of evidence Level IV-prognostic study.
- Published
- 2021
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