Dyslipidaemia in various inherited metabolic disorders
| Lipid or lipoprotein abnormality | Metabolic pathway | Inherited metabolic disorder (mode of inheritance) | Affected gene |
| Hypertriglyceridaemia | Disorder of exogenous lipoprotein metabolism | Familial chylomicronaemia syndrome (AR) | LPL, APOC2, APOA5, LMF5, GPIHBP1 |
| Disorder of endogenous lipoprotein metabolism | Familial hypertriglyceridaemia (AD) Dysbetalipoproteinaemia (AR) |
APOA5, LIPI
APOE | |
| Other disorders | Glycogen storage disease (AR) Hereditary lipodystrophy (AR) Hyperglycerolaemia (X-linked recessive) |
G6PC
AGPAT2, BSCL2, LMNA GK | |
| Low HDL-C | Disorders of reverse cholesterol transport | Apolipoprotein A-1 deficiency (AR) Tangier disease (AR) Familial LCAT deficiency (AR) (FLD and FED) |
APOA1
ABCA1 LCAT |
| Disorders of intracellular cholesterol trafficking (LSD) | Lysosomal acid lipase deficiency (AR) Gaucher disease type 1 (AR) Niemann-Pick type C (AR) Niemann-Pick type B (AR) |
LIPA
GBA NPC1, NPC2 SMPD1 | |
| High HDL-C | Disorder of reverse cholesterol transport | Cholesterol ester transfer protein Deficiency (AD) Scavenger receptor B1 deficiency |
CETP
SCARB1 |
| Low LDL-C | Disorder of apo-B or CM synthesis | Abetalipoproteinaemia (AR) Familial hypobetalipoproteinaemia (AD) Chylomicron retention disease (AR) |
MTTP
APOB SAR1B |
| High LDL-C | Disorders of LDL removal | Familial hypercholesterolaemia (AD) AR—hypercholesterolaemia |
LDLR, APOB, PCSK9
LDLRAP1 |
| Defect in sterol transport | Sitosterolemia (AR) | ABCG5, ABCG8 |
AD, autosomal dominant; apo-B, apolipoprotein B; AR, autosomal recessive; CM, chylomicron; FED, fish eye disease; FLD, familial LCAT deficiency;HDL-C, high-density lipoprotein cholesterol; LDL-C, low-density lipoprotein cholesterol; LSD, lysosomal storage disease.