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Summary
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY
HYPERLIPOPROTEINEMIA, TYPE I HYPERCHYLOMICRONEMIA
238600
OMIM = Online Medalian Inheritance of Men
309015
8p21.3
  • low-fat diet
  • medium-chain triglycerides (MCT)
rare (1:1000000)
autosomal recessive
mutation in the lipoprotein lipase gene
symptoms
atherosclerosis
dyspnea
hepatomegaly (large liver)
lipemia retinalis
onset, childhood
onset, infancy
onset, neonatal
pain, abdominal
pancreatitis
recent memory loss
splenomegaly (large spleen)
vomiting
xanthoma
laboratory finding
Chylomicrons present inplasma
Triglycerides1000.0015000.0030.0099.00mg/dlserum
Lipoprotein lipase 100.00decreased activityplasma
Uric acid increasedserum
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Ogimoto M,et al.Criteria for early identification of aceruloplasminemiaIntern Med50131415-14182011
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Roberti Mdo R,et al.Aceruloplasminemia: a rare disease - diagnosis and treatment of two casesRev Bras Hematol Hemoter335389-3922011