Chylomicron retention disease

Definition:

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.

References:

[1]. Tomoo Okada, et al. Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. Orphanet J Rare Dis. 2011 Nov 21;6:78. [Content Brief]

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