Lipids and Fats Metabolism Guide

Fatty Acids

Essential Fatty Acids (EFA)

Functions & Physiological Role:

• Brain development and myelination
• Retinal development
• Cell membrane integrity
• Inflammatory mediator precursors
• Neurotransmitter function

Clinical Significance:

• Required for normal growth and development
• Critical in first 2 years of life
• Important for preterm infants
• Affects visual and cognitive development

Associated Disorders:

• Essential Fatty Acid Deficiency
• Developmental Delay
• Visual Processing Disorders
• Growth Failure
• Neurocognitive Impairment

Long-Chain Polyunsaturated Fatty Acids (LCPUFA)

Functions & Physiological Role:

• DHA - Neural tissue development
• EPA - Anti-inflammatory effects
• Arachidonic Acid - Growth signaling
• Membrane fluidity regulation

Clinical Significance:

• Critical for premature infant development
• Affects immune system maturation
• Influences cognitive outcomes
• Important in maternal-fetal transfer

Associated Disorders:

• LCPUFA Deficiency Syndrome
• Retinopathy of Prematurity
• Neurodevelopmental Disorders
• Immune System Dysfunction

Medium-Chain Fatty Acids (MCFA)

Functions & Physiological Role:

• Rapid energy source
• Easy absorption without bile salts
• Direct portal system entry
• Ketone body production

Clinical Significance:

• Therapeutic in malabsorption
• Important in parenteral nutrition
• Used in ketogenic diets
• Beneficial in specific metabolic disorders

Associated Disorders:

• Long-Chain Fatty Acid Oxidation Disorders
• Chylomicron Synthesis Defects
• Intestinal Lymphangiectasia
• Severe Malnutrition

Phospholipids

Membrane Phospholipids

Functions & Physiological Role:

• Cell membrane structure
• Signal transduction
• Membrane trafficking
• Cellular polarity maintenance
• Surfactant composition

Clinical Significance:

• Essential for lung maturation
• Critical for neural development
• Required for membrane repair
• Important in cellular signaling

Associated Disorders:

• Respiratory Distress Syndrome
• Surfactant Metabolism Dysfunction
• Membrane Lipid Disorders
• Sjogren-Larsson Syndrome

Cholesterol and Steroids

Cholesterol

Functions & Physiological Role:

• Membrane fluidity regulation
• Precursor for steroid hormones
• Bile acid synthesis
• Brain development and myelination
• Hedgehog protein modification
• Vitamin D synthesis pathway

Clinical Significance:

• Critical for neurodevelopment
• Essential for hormone synthesis
• Required for cell signaling
• Important in embryonic development
• Necessary for bile acid production

Associated Disorders:

• Smith-Lemli-Opitz Syndrome
• Familial Hypercholesterolemia
• Abetalipoproteinemia
• Tangier Disease
• CHILD Syndrome
• Desmosterolosis

Steroid Hormones

Functions & Physiological Role:

• Sexual development and differentiation
• Growth and development regulation
• Stress response
• Mineral homeostasis
• Glucose metabolism
• Immune system modulation

Clinical Significance:

• Puberty regulation
• Growth velocity
• Stress adaptation
• Metabolic homeostasis

Associated Disorders:

• Congenital Adrenal Hyperplasia
• Adrenal Insufficiency
• Disorders of Sexual Development
• Cushing Syndrome
• Lipoid Adrenal Hyperplasia

Sphingolipids

Sphingomyelin

Functions & Physiological Role:

• Myelin sheath formation
• Signal transduction
• Cell membrane structure
• Apoptosis regulation
• Cell recognition

Clinical Significance:

• Critical for nerve conduction
• Essential for brain development
• Important in cell signaling
• Role in immune response

Associated Disorders:

• Niemann-Pick Disease
• Multiple Sclerosis
• Peripheral Neuropathies
• Sphingomyelin Storage Disease

Glycosphingolipids

Functions & Physiological Role:

• Cell surface recognition
• Neural development
• Immune system function
• Cell differentiation
• Signal transduction

Clinical Significance:

• Neural tissue development
• Immune system regulation
• Cell-cell communication

Associated Disorders:

• Gaucher Disease
• Tay-Sachs Disease
• Fabry Disease
• Krabbe Disease
• GM1/GM2 Gangliosidosis
• Metachromatic Leukodystrophy

Triglycerides and Storage Lipids

Triglycerides

Functions & Physiological Role:

• Energy storage
• Thermal insulation
• Organ protection
• Essential fatty acid transport
• Fat-soluble vitamin absorption

Clinical Significance:

• Growth and development
• Energy homeostasis
• Metabolic health
• Nutrient absorption

Associated Disorders:

• Familial Hypertriglyceridemia
• Lipoprotein Lipase Deficiency
• Familial Chylomicronemia
• Primary Carnitine Deficiency
• Glycogen Storage Disease Type 1

Complex Lipids and Transport

Lipoproteins

Functions & Physiological Role:

• Lipid transport
• Cholesterol homeostasis
• Fat-soluble vitamin delivery
• Triglyceride distribution
• Reverse cholesterol transport

Clinical Significance:

• Cardiovascular health
• Growth and development
• Nutrient delivery
• Metabolic regulation

Associated Disorders:

• Familial Combined Hyperlipidemia
• Hypoalphalipoproteinemia
• Hyperlipoproteinemia
• LCAT Deficiency
• Apolipoprotein Deficiencies

Disclaimer

The notes provided on Pediatime are generated from online resources and AI sources and have been carefully checked for accuracy. However, these notes are not intended to replace standard textbooks. They are designed to serve as a quick review and revision tool for medical students and professionals, and to aid in theory exam preparation. For comprehensive learning, please refer to recommended textbooks and guidelines.