Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein...
21 KB (2,253 words) - 12:35, 20 October 2024
resembling many-pointed stars. They are seen on blood films in abetalipoproteinemia, liver disease, chorea acanthocytosis, McLeod syndrome, and several...
7 KB (733 words) - 20:34, 26 June 2024
Chylomicron (section Abetalipoproteinemia (ABL))
responses, further accelerating the development of atherosclerosis. Abetalipoproteinemia (ABL; OMIM 200100) is a rare autosomal recessive disorder caused...
14 KB (1,532 words) - 18:12, 28 July 2024
central role in lipoprotein assembly. Mutations in MTTP can cause abetalipoproteinemia. Apolipoprotein B48 on chylomicra and Apolipoprotein B100 on LDL...
9 KB (1,093 words) - 02:00, 20 June 2024
pyruvate kinase deficiency, hereditary pyropoikilocytosis, and abetalipoproteinemia. Acquired causes include nutrient deficiency/malnutrition (e.g. cobalamine...
3 KB (199 words) - 14:24, 16 November 2021
often pass greasy stools or have chronic diarrhea and bloating). Abetalipoproteinemia is a rare inherited disorder of fat metabolism that results in poor...
7 KB (806 words) - 10:23, 15 September 2024
elliptocytosis is another defect in membrane skeleton proteins. Abetalipoproteinemia, causing defects in membrane lipids Enzyme deficiencies Pyruvate...
85 KB (8,824 words) - 09:44, 9 October 2024
specified) Honemia: chylomicrons Hypolipoproteinemia: lipoproteins Abetalipoproteinemia: beta lipoproteins Tangier disease: Tangier disease is an inherited...
30 KB (2,967 words) - 22:36, 25 September 2024
the delivery of cholesterol include Smith–Lemli–Opitz syndrome and abetalipoproteinemia.Of the synthesis problems, congenital adrenal hyperplasia is the...
45 KB (4,423 words) - 23:44, 20 October 2024
Secondary Allergic, collagen, autoimmune diseases Diabetic neuropathy Abetalipoproteinemia Electrolyte abnormalities Hypokalemia Deficiency disorders Vitamin...
5 KB (532 words) - 02:05, 1 January 2024
these disorders is critical. Diseases include vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann–Pick type C disease, Refsum's...
55 KB (5,946 words) - 11:42, 14 October 2024
most commonly occurs with chronic alcohol use disorder. Metabolic abetalipoproteinemia, glycogen storage diseases, Weber–Christian disease, acute fatty...
38 KB (3,896 words) - 12:27, 19 October 2024
Zollinger-Ellison syndrome, short bowel syndrome, inflammatory bowel disease and abetalipoproteinemia. Other causes: Drugs that can produce steatorrhea include orlistat...
13 KB (1,388 words) - 19:37, 18 July 2024
MT-TP (section Abetalipoproteinemia)
absorption. Mutations in MT-TP have been associated with abetalipoproteinemia. Abetalipoproteinemia is an inherited disorder characterized by an impaired...
8 KB (910 words) - 03:54, 15 June 2024
An excess of sphingomyelin in the red blood cell membrane (as in abetalipoproteinemia) causes excess lipid accumulation in the outer leaflet of the red...
17 KB (1,972 words) - 21:12, 19 May 2024
the delivery of cholesterol include Smith–Lemli–Opitz syndrome and abetalipoproteinemia.[verification needed] Of the synthesis problems, congenital adrenal...
39 KB (3,543 words) - 22:04, 6 September 2024
Acanthocytosis in a patient with abetalipoproteinemia...
15 KB (1,385 words) - 17:10, 6 April 2024
fibrosis, congenital biliary atresia, intestinal resection, and abetalipoproteinemia (Bassen-Kornzweig syndrome). Carmel R (November 2007). "The disappearance...
9 KB (912 words) - 22:28, 24 February 2024
neutral lipids to nascent apolipoprotein B. MTP has a large use for abetalipoproteinemia patients with MTP mutations because of how it affects the assembly...
11 KB (1,551 words) - 02:54, 2 July 2023
associated with microsomal triglyceride transfer protein which causes abetalipoproteinemia. A third form, chylomicron retention disease (CRD), is associated...
4 KB (322 words) - 07:29, 3 June 2024
Disorders, Global Genes Project, Children's Rare Disease Network, Abetalipoproteinemia Collaboration Foundation, Zellweger Baby Support Network, and the...
35 KB (4,197 words) - 13:34, 26 September 2023
terminology is sometimes used in describing lipid disorders such as abetalipoproteinemia. Lipoproteins, such as LDL and HDL, can be further subdivided into...
23 KB (2,599 words) - 18:32, 30 July 2024
chorea include benign hereditary chorea, bilateral striatal necrosis, abetalipoproteinemia, ataxia–telangiectasia, biotin-thiamine-responsive basal ganglia...
27 KB (3,014 words) - 08:43, 16 July 2024
(spiked) RBCs, ataxia, steatorrhea, and absence of VLDL is seen in abetalipoproteinemia. RP is seen clinically in association with several other rare genetic...
63 KB (6,334 words) - 02:32, 19 October 2024
food sensitivities, etc. From age 0–30 days, typical causes are: Abetalipoproteinemia, a condition caused by a genetic mutation that creates abnormal absorption...
34 KB (3,779 words) - 22:06, 22 June 2024
nutrients from the intestines), such as in celiac disease malnutrition abetalipoproteinemia - a rare genetic disease that causes cholesterol readings below 50 mg/dL...
9 KB (917 words) - 01:15, 4 December 2023
(gene), a proto-oncogene associated with chronic myelogenous leukemia Abetalipoproteinemia, a rare genetic disorder Accidental bowel leakage, also known as...
3 KB (390 words) - 20:00, 25 February 2024
Alpha-lipoproteinemia Combined hyperlipidemia 272.5 Lipoprotein deficiencies Abetalipoproteinemia Bassen-Kornzweig syndrome High-density lipoid deficiency Hypoalphalipoproteinemia...
16 KB (1,399 words) - 17:41, 9 February 2024
severe cirrhosis or pancreatitis,: 150 but can refer specifically to abetalipoproteinemia, a clinical condition with acanthocytic red blood cells, neurologic...
70 KB (2,582 words) - 03:15, 16 December 2023
co-discoverer and namer of Bassen-Kornzweig Syndrome, also called Abetalipoproteinemia. It was first noted by the United States physician Frank Bassen,...
8 KB (829 words) - 01:34, 18 August 2024