Endocrine & Metabolic
Hormonal loops, pancreatic autoimmune disorders, and inherited errors of metabolism.
2 subcategories • 9 reference files
Endocrine Gland & Pancreatic Dysregulations (3)
Emergency Type 1 Diabetes Mellitus (Pediatric)
Autoimmune Pancreatic Beta-Cell Destruction Disorder
Peak presentation windows occur between 4 to 7 years and 10 to 14 years.
Severe Congenital Hypothyroidism
Inborn Thyroid Hormone Deficiency Disorder
Neonates (Screened at birth; symptoms develop in the first few weeks if untreated)
Severe Type 2 Diabetes Mellitus (Pediatric)
Chronic disorder of high blood sugar from insulin resistance and relative insulin deficiency.
Increasingly seen in older children and adolescents, often around puberty.
Inherited Inborn Errors of Metabolism (6)
Severe Phenylketonuria (PKU)
Inborn Error of Amino Acid Metabolism
Neonates (Screened at birth; symptoms develop over the first year if untreated)
Emergency Classic Galactosemia
Inborn Error of Carbohydrate Metabolism
Neonates (Symptoms present within days of initiating milk feeding)
Emergency Addison's Disease (Adrenal Insufficiency)
Pediatric Primary Adrenal Insufficiency Syndrome
School-aged children and adolescents (rare in infants, though congenital forms exist)
Emergency Congenital Adrenal Hyperplasia (CAH)
Inherited Adrenal Steroidogenesis Enzyme Deficiency
Neonates and infants (salt-wasting crises present in the first 2 weeks of life)
Emergency Maple Syrup Urine Disease (MSUD)
Inherited Branched-Chain Amino Acid Decarboxylase Deficiency
Neonates (onset within 48 to 72 hours of starting milk feedings)
Severe Tay-Sachs Disease
Inherited GM2 Gangliosidosis Lysosomal Storage Disorder
Infants (onset of symptoms typically between 3 and 6 months of age)