Orthopaedic Problems in 35 Patients With Organic Acid Disorders

Area of Science:

• Biochemistry
• Genetics
• Orthopedics

Background:

• Organic acid disorders (OADs) are metabolic diseases causing toxic organic acid buildup.
• These conditions can lead to severe metabolic derangements and encephalopathy.
• Orthopaedic complications of OADs are not well-understood, necessitating further investigation.

Purpose of the Study:

• To describe the spectrum of orthopaedic problems in patients with five common OADs.
• To identify the prevalence of specific musculoskeletal issues in this patient population.

Main Methods:

• Retrospective review of 35 patients with OADs seen between 1999 and 2020.
• Analysis of orthopaedic presentations including hip, knee, and foot disorders, scoliosis, fractures, movement disorders, and bone density.
• Categorization of patients by OAD type: maple syrup urine disease, methylmalonic aciduria, propionic aciduria, pyruvate dehydrogenase deficiency, and glutaric aciduria type 1.

Main Results:

• 22 out of 35 patients (63%) had at least one orthopaedic condition.
• Common issues included neuromuscular scoliosis/hip subluxation (10 patients), fractures (7 patients), and osteopenia/osteoporosis (7 patients).
• Maple syrup urine disease and methylmalonic aciduria were the most common OADs in the cohort.

Conclusions:

• A significant majority of patients with OADs present with orthopaedic abnormalities.
• Physicians must be aware of the high risk of musculoskeletal problems in OAD patients.
• Collaborative, multidisciplinary care involving various specialists is essential for optimal management.