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Summary
APOLIPOPROTEIN C-II DEFICIENCY
HYPERLIPOPROTEINEMIA TYPE I
207750
OMIM = Online Medalian Inheritance of Men
309020
19q13.32
  • avoidance of specific drugs
  • high-carbohydrate diet
  • high-protein diet
  • lipid-lowering drugs
  • low-fat diet
  • medium-chain triglycerides (MCT)
rare (30 cases)
autosomal recessive
mutation in the APOC2 gene
symptoms
anemia
hepatomegaly (large liver)
lipemia retinalis
onset, adolescent
pain, abdominal
pancreatitis
recent memory loss
splenomegaly (large spleen)
xanthoma
laboratory finding
Triglycerides500.0010000.0040.00128.00mg/dlserum
Chylomicrons
Very low density lipoproteins (VLDL)
Cholesterol increasedserum
HDL cholesterol decreasedserum
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Lueder GTSteiner RDOphthalmic abnormalities in molybdenum cofactor deficiency and isolated sulfite oxidase deficiencyJ Pediatr Ophthalmol Strabismus320334-3371995
Barak Yet al.MELAS syndrome: peripheral neuropathy and cytochrome c-oxidase deficiency: a case report and review of the literatureIsr J Med Sci314224-2291995
Zimmer KPet al.Survival after early treatment for carbamyl phosphate synthetase (CPS) I deficiency associated with increase of intramitochondrial CPS ILancet34601530-15311995
Lueder GTSteiner RDOphthalmic abnormalities in molybdenum cofactor deficiency and isolated sulfite oxidase deficiencyJ Pediatr Ophthalmol Strabismus320334-3371995
McGraw Pet al.Krabbe disease treated with hematopoietic stem cell transplantation: serial assessment of anisotropy measurements--initial experienceRadiology2361221-2302005
Gibson KMBreuer J, Nyhan WL3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patientsEur J Pediatr1480180-1861988