Chylomicron retention disease
| Chylomicron retention disease | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 246700 |
| DiseasesDB | 33188 |
| Patient UK | Chylomicron retention disease |
Chylomicron retention disease is a disorder of fat absorption.[1] It is associated with SAR1B.[2] Mutations in SAR1B prevent the release of chylomicrons in the circulation which leads to nutritional and developmental problems.[3] It is a rare autosomal recessive disorder with around 40 cases reported worldwide, since it is recessive parents usually do not express symptoms.[3]
Without functional chylomicrons certain fat-soluble vitamins such as vitamin D and vitamin E cannot be absorbed. Chylomicrons have a crucial role in fat absorption and transport, thus deficiency in chylomicron functioning reduces available levels of dietary fats and fat-soluble vitamins.[3]
Signs and Symptoms
In the months following birth, signs and symptoms will appear. Some symptoms will manifest gradually during childhood.[3]
- Failure to gain weight
- Failure to thrive
- Diarrhea
- Foul-smelling feces, steatorrhea
- Impaired nervous system functions
- Decreased reflexes, hyporeflexia
References
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