Chylomicron retention disease

Chylomicron retention disease
Classification and external resources
OMIM	246700
DiseasesDB	33188

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

↑ Roy CC, Levy E, Green PH; et al. (February 1987). "Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease". Gastroenterology 92 (2): 390–9. PMID 3792776.
↑ Jones B, Jones EL, Bonney SA; et al. (May 2003). "Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders". Nat. Genet. 34 (1): 29–31. doi:10.1038/ng1145. PMID 12692552.
1 2 3 4 http://ghr.nlm.nih.gov/condition/chylomicron-retention-disease

Inborn error of lipid metabolism: dyslipidemia (E78, 272.0–272.6)

Hyperlipidemia

Hypolipoproteinemia

Hypoalphalipoproteinemia/HDL	Lecithin cholesterol acyltransferase deficiency Tangier disease

Hypobetalipoproteinemia/LDL	Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease

Lipodystrophy

Barraquer–Simons syndrome

Other

Deficiencies of intracellular signaling peptides and proteins

GTP-binding protein regulators

GTPase-activating protein	Neurofibromatosis type I Watson syndrome Tuberous sclerosis

Guanine nucleotide exchange factor	Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1

G protein

Heterotrimeic	cAMP/GNAS1: Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2

Monomeric	RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF: SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3

MAP kinase

Cardiofaciocutaneous syndrome

Other kinase/phosphatase

Tyrosine kinase	BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency

Serine/threonine kinase	RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4/WNK1 Pseudohypoaldosteronism 2

Tyrosine phosphatase	PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis

Signal transducing adaptor proteins

Other

NF2
- Neurofibromatosis type II
NOTCH3
- CADASIL
PRKAR1A
- Carney complex
PRKAG2
- Wolff–Parkinson–White syndrome
PRKCSH
- PRKCSH Polycystic liver disease
XIAP
- XIAP2

See also intracellular signaling peptides and proteins

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