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Results 1 - 10 of 29 for "Hyperlipoproteinemia," type I
  1. Familial lipoprotein lipase deficiency 
    ... fat-induced hypertriglyceridemia Familial hyperchylomicronemia Familial LPL deficiency Hyperlipoproteinemia type I Hyperlipoproteinemia type Ia Lipase D deficiency LIPD ...
    https://medlineplus.gov/.../familial-lipoprotein-lipase-deficiency - Genetics
  2. Greenberg dysplasia 
    ... important role in the production (synthesis) of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals: eggs, meat, fish, and dairy products. Cholesterol is necessary for normal embryonic development and has ...
    https://medlineplus.gov/genetics/condition/greenberg-dysplasia - Genetics
  3. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 
    ... that is involved in the production of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals, particularly egg yolks, meat, fish, and dairy products. Although high cholesterol levels are a well-known risk factor for ...
    https://medlineplus.gov/...hthyosiform-erythroderma-and-limb-defects - Genetics
  4. Ataxia with oculomotor apraxia 
    ... with type 2 usually have normal albumin levels, cholesterol may be elevated.Ataxia with oculomotor apraxia type 4 begins around age 4. In addition to ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  5. Niemann-Pick disease 
    ... cholesterol lipidosis Neuronal lipidosis NPD Sphingomyelin lipidosis Sphingomyelin/cholesterol lipidosis Sphingomyelinase deficiency Genetic Testing Registry: Niemann-Pick disease, type C1 Genetic Testing Registry: Niemann-pick disease, intermediate, ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  6. Propionic acidemia 
    ... Propionyl-CoA carboxylase also helps break down certain types of fat and cholesterol in the body. Mutations in the PCCA or ...
    https://medlineplus.gov/genetics/condition/propionic-acidemia - Genetics
  7. Familial HDL deficiency 
    ... disorder Tangier disease. Familial hypoalphalipoproteinemia FHA HDL deficiency, type 2 HDLD Low serum HDL cholesterol Primary hypoalphalipoproteinemia Apolipoprotein A-I deficiency National Organization ...
    https://medlineplus.gov/genetics/condition/familial-hdl-deficiency - Genetics
  8. Autosomal recessive congenital methemoglobinemia 
    ... and formation of fatty acids, the formation of cholesterol, and the breakdown of various molecules and drugs.CYB5R3 gene mutations that cause autosomal recessive congenital methemoglobinemia type I typically reduce enzyme activity or stability. As ...
    https://medlineplus.gov/...al-recessive-congenital-methemoglobinemia - Genetics
  9. MEGDEL syndrome 
    MEGDEL syndrome is an inherited disorder that affects multiple body systems. It is named for several of its features: 3-methylglutaconic aciduria (MEG), deafness ( ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  10. Spastic paraplegia type 5A 
    ... Crosby AH. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet. 2008 Feb;82(2):510-5. doi: 10.1016/j.ajhg.2007.10.001. Epub 2008 Jan 18. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-5a - Genetics
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