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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
symptoms
atherosclerosis
dyspnea
hepatomegaly (large liver)
lipemia retinalis
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