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
