Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0015695 (fatty liver)
 13,941 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 47-year-old man who had cerebellar ataxia and low plasma lipid and lipoprotein levels is reported. His tendon reflexes were hyperactive and the plantar responses were extensor. There was no acanthocytosis. Total lipids (380 mg/dl), total cholesterol (106 mg/dl), esterified cholesterol (74 mg/dl), triglyceride (58 mg/dl), phospholipids (124 mg/dl) and free fatty acids (303 muequiv./l) were generally decreased. A disturbance of lipid absorption due to a defect of chylomicron formation and hepatic steatosis were also disclosed. On lipoprotein electrophoresis, prebetalipoprotein was very faint and migrated more slowly than normal. Betalipoprotein and alphalipoprotein were moderately reduced in concentration but migrated normally. The concentration of isolated VLDL was only one-tenth of that in normal subjects and it migrated as slow prebetalipoprotein. Although the lipid composition of VLDL was similar to that of normal VLDL, the lack of minor components was disclosed by SDS-PAG electrophoresis. Incorporation of [1-14C]acetate into VLDL lipids was significantly reduced to a greater extent than that of LDL and HDL. From these findings, we discuss the possibility that hypobetalipoproteinemia results from impaired VLDL synthesis.
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PMID:Hypobetalipoproteinemia with abnormal prebetalipoprotein. 19 71

Thirteen members of a family carrying a gene for pedigree of hypobetalipoproteinemia were analyzed for lipoprotein compositions, apolipoprotein (apo) B levels, and apo B isoforms. Judging from low density lipoprotein (LDL)-cholesterol (Chol) and apo B levels, a 75-year-old proband, a father who died of unknown fever, thrombopenia, and anemia, and his wife were heterozygous for hypobetalipoproteinemia. The proband had ataxic movement of hands and gait disturbance in later life. Three of four living siblings had extremely low levels of LDL-Chol (6 mg/dL) and LDL-apo B (2 mg/dL), and were postulated to have homozygous hypobetalipoproteinemia. Electrophoresis revealed marked deficiency of apo B-100, although trace amounts were noted in LDL. In contrast, apo B-48 was present in chylomicrons obtained after a fatty meal in the two patients with homozygous hypobetalipoproteinemia, indicating a selective deficiency of apo B-100 but not apo B-48. The defect in these patients seemingly is different from abnormal apo B-37 reported recently for a family with hypobetalipoproteinemia. Clinically, acanthocytotic red blood cells (8% to 12%), fatty liver, and low levels of serum lipid-soluble vitamins A and D were noted in homozygotes. One heterozygous sibling had 26 mg/dL LDL-Chol and 5 mg/dL LDL-apo B levels. All seven subjects in the third generation had low levels of Chol (85 to 140 mg/dL), LDL-Chol (40 to 63 mg/dL) and LDL-apo B (10 to 20 mg/dL). They also showed mild acanthocytosis (0.5% to 2%) and a decrease of fat-soluble vitamins in plasma.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Homozygous hypobetalipoproteinemia with spared chylomicron formation. 290 27

The authors report the cases of 3 patients with severe alcoholic cirrhosis and spur cell anemia. The spur cell anemia must be suspected when there is haemolytic anemia, highly macrocytic with normal serum level of cholesterol and without fatty liver. The cytologic confirmation is difficult even with a phase contrast microscope. The evolution did not exceed 7 and 8 months in 2 cases; the third patient is still alive but quite sick after 1.5 year. These data lead us to point out the difficulty of the diagnosis by routine light microscopy and to remind the poor prognosis after the spur cell anemia is discovered, as documented in the literature.
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PMID:[Anemia caused by acanthocytosis in the cirrhotic patient: diagnosis and prognostic significance. 3 cases]. 666 2

Deficiency of apolipoprotein can be of genetic origin or due to diseases like advanced chronic liver disease. Deficiency of apolipoprotein A causes Tangier disease without any major hepatic involvement being reported. Deficiency of apolipoprotein B causes abetalipoproteinemia or familial hypobetalipoproteinemia; with hepatic involvement in the form of raised transaminases, fatty liver and cirrhosis. Advanced chronic liver disease itself can cause reduction of apolipoprotein A and apolipoprotein B levels and acanthocytosis. In patients with chronic liver disease of undetermined etiology, lipid profile and apolipoprotein levels should be obtained routinely. If it suggests apolipoprotein B deficiency, then liver biopsy can be avoided, as the etiology of chronic liver disease is established. Isolated deficiency of either apolipoprotein A or apolipoprotein B suggests etiology of chronic liver disease, while deficiency of both apolipoprotein A and apolipoprotein B is a manifestation of advanced chronic liver disease.
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PMID:Apolipoprotein deficiency and chronic liver disease. 1122 45

Abetalipoproteinemia (ABL; OMIM 200100) and homozygous hypobetalipoproteinemia (HHBL; OMIM 107730) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein (apo) B-containing lipoprotein particles due to mutations either in both alleles of the MTP (alias MTTP) gene encoding microsomal triglyceride transfer protein (MTP) or both alleles of the APOB gene itself in the case of ABL and HHBL, respectively. Clinical diagnosis is based on signs and symptoms, acanthocytosis on blood smear, and virtually absent apo B-containing lipoproteins, including chylomicrons, very low density lipoprotein and low density lipoprotein. Obligate heterozygote parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, while heterozygous parents of HHBL patients typically have half normal levels of apo B-containing lipoproteins consistent with autosomal co-dominant inheritance. Definitive diagnosis involves sequencing the MTP and APOB genes, for which >30 and >60 mutations have been described for ABL and HHBL, respectively. Follow-up includes monitoring for ophthalmologic, neurologic, hematologic, and hepatic complications, as well as compliance with treatment. Investigations include lipid profile, serum transaminases, markers for lipid-soluble vitamins, and periodic instrumental assessment of ocular and neurological function. Mainstays of treatment include adherence to a low-fat diet, and supplementation with essential fatty acids and high oral doses of fat soluble vitamins. Prognosis is variable, but early diagnosis and strict adherence to treatment can recover normal neurological function and halt disease progression.
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PMID:Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. 2428 38