Multiprofessional Critical Care Review: Pediatric 2024 (MCCRCP24ON)-Algorithms for Metabolic Rheumatologic

Algorithms for Metabolic Rheumatologic

Pdf Summary

The document presents a comprehensive overview of various inborn errors of metabolism (IEM) and their intersection with rheumatological diseases. The text is authored by Alicia M. Alcamo, MD, MPH, and H. Michael Ushay, MD, PhD, FCCM, and covers disorders of protein, fatty acid, and carbohydrate metabolism, as well as mitochondrial disorders, with a specific focus on Urea Cycle Defects (UCD) and Organic Acidemias (OA).<br /><br /><strong>Inborn Errors of Metabolism (IEM):</strong><br />Key conditions discussed include:<br />- <strong>Urea Cycle Defects (UCD):</strong> Symptoms include hyperammonemia, metabolic alkalosis, and elevated hepatic transaminases. Acute management involves hemodialysis and supplementation with essential amino acids.<br />- <strong>Maple Syrup Urine Disease (MSUD):</strong> Characterized by poor feeding, vomiting, lethargy, and the distinct maple syrup odor in urine. Management includes hydration, glucose infusions, protein restriction, and hemodialysis.<br />- <strong>Organic Acidemias:</strong> Including Methylmalonic acidemia (MMA), Propionic acidemia (PA), and Isovaleric acidemia (IVA), which present with vomiting, acidosis, hyperammonemia, and hypoglycemia.<br /><br /><strong>Clinical Cases:</strong><br />- A 3-day-old infant suspected of MSUD presented with symptoms like poor feeding, drowsiness, hypertonia, and bicycling movements of the legs. Laboratory findings included metabolic acidosis and elevated ammonia.<br />- A 4-day-old with neurological changes, metabolic acidosis, and elevated propionylcarnitine was diagnosed with Propionic Acidemia (PA).<br /><br /><strong>Rheumatological Diseases:</strong><br />- <strong>Systemic Lupus Erythematosus (SLE):</strong> Features anti-double stranded DNA, anti-nuclear antibodies, and multi-system involvement including renal, pulmonary, and neurological manifestations.<br />- <strong>Systemic Juvenile Idiopathic Arthritis (sJIA):</strong> Symptoms include quotidian fever, salmon-pink rash, and arthritis. Severe complications are managed with IL-1 or IL-6 inhibitors, glucocorticoids, and NSAIDs.<br />- <strong>Systemic Vasculitis:</strong> Diagnosed through physical exams, lab evaluations (vWF, ANCAs, ANAs), and tissue biopsy considered as the gold standard.<br /><br /><strong>Laboratory and Management Strategies:</strong><br />- Diagnostics include plasma amino acids, urine organic acids, and acylcarnitine analysis. Management typically involves dietary modifications, enzyme replacement, and supportive care.<br /><br /><strong>Clinical Presentation & Diagnosis:</strong><br />- Mitochondrial disorders present with multi-organ involvement and are diagnosed through elevated lactate, muscle biopsy, and mtDNA analysis. Treatments include supportive care and a “Mito Cocktail” which contains Coenzyme Q10, carnitine, creatinine, and folate.<br /><br />The overall document emphasizes immediate and long-term strategies for managing IEMs while also highlighting the importance of recognizing clinical features early to tailor effective treatments for metabolic and rheumatological conditions.

Keywords

Inborn Errors of Metabolism

Urea Cycle Defects

Maple Syrup Urine Disease

Organic Acidemias

Systemic Lupus Erythematosus

Systemic Juvenile Idiopathic Arthritis

Systemic Vasculitis

Mitochondrial Disorders

Rheumatological Diseases

Metabolic Acidosis

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