Chylomicron retention disease (CRD) is a rare autosomal recessive disorder characterized by malabsorption, failure to thrive (FTT), developmental difficulties, mental retardation, abnormal vibration sense, and hyporeflexia. CRD is caused by a mutation in the SAR1B gene, which codes for an essential component of the vesicular coat protein complex II (COPII) necessary for endoplasmic reticulum to Golgi transport.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of lipoprotein metabolism or certain specified lipidaemias
5C81 Hypolipoproteinaemia
H00927 Chylomicron retention disease