Metabolic Studies in an Unusual Case of Asymptomatic Familial Hypobetalipoproteinemia with Hypoalphalipoproteinemia and Fasting Chylomicronemia

Steinberg, Daniel; Grundy, Scott M.; Mok, Henry; Turner, John D.; Weinstein, David; Brown, W. Virgil; Albers, John J.

doi:10.1172/jci109451

Cited by 76 publications

(28 citation statements)

References 38 publications

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“…However, a disease essentially indistinguishable from recessive abetalipoproteinemia occurs in the homozygous state (1,8,9). Recently, a genetic disorder with severe hypobetalipoproteinemia but with nearly normal absorption of triglycerides has been described (10). In this report we present a distinct, new syndrome, which we term normotriglyceridemic abetalipoproteinemia, in which normal LDL are absent, but in which intestinal absorption of triglycerides and the secretion of chylomicrons into plasma are intact.…”

Section: Introductionmentioning

confidence: 78%

“…In the disorder we describe, this phenomenon is evident in the d < 1.006 g/Cm3 lipoprotein fraction as well as in the HDL. As in recessive abetalipoproteinemia (1, 4), homozygous hypobetalipoproteinemia (1), and the syndrome described by Steinberg et al (10), the lipoproteins are deficient in the monosialated form of apo C-III. This observation is consistent with the hypothesis, based on studies of inhibition of VLDL secretion in the rat with orotic acid (37), that apo C-IIIl is primarily secreted from the liver with VLDL, whereas apo C-Ill2 is secreted with HDL.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Normotriglyceridemic abetalipoproteinemia. absence of the B-100 apolipoprotein.

Malloy¹,

Kane²,

Hardman³

et al. 1981

J. Clin. Invest.

193

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Section: Introductionmentioning

confidence: 78%

Section: Discussionmentioning

confidence: 99%

Normotriglyceridemic abetalipoproteinemia. absence of the B-100 apolipoprotein.

Malloy¹,

Kane²,

Hardman³

et al. 1981

J. Clin. Invest.

193

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“…Apo C-III-1 is completely absent or greatly reduced in recessive abetalipoproteinemia and homozygous hypobetalipoproteinemia (31,35), and we have postulated that this species of apo C-III is elaborated together with VLDL while the disialylated apo C-III-2 is secreted independently (38). Apo C-III-1 was also not identified in the unusual case of hypobetalipopro-% TOTAL RADIOACTIVITY RECOVERED ZONE PROMND MOTHER FATHER (39). The latter patient responded to a high carbohydrate diet with a fall in plasma triglycerides and, like our patient, had mild steatorrhea and persistent chylomicronemia after an overnight fast.…”

Section: Discussionmentioning

confidence: 91%

“…The parents of Malloy's patient (14) were not available for testing. In the kindred reported by Steinberg and co-workers (39), the disorder segregated like an autosomal dominant trait with highly variable penetrance. Affected children of the proband and several of his hypocholesterolemic siblings had subnormal plasma triglycerides (39),…”

Section: Discussionmentioning

confidence: 93%

Apolipoprotein B-100 deficiency. Intestinal steatosis despite apolipoprotein B-48 synthesis.

Herbert¹,

Hyams²,

Bernier³

et al. 1985

J. Clin. Invest.

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We describe a child, the issue of phenotypically normal parents, who had fat malabsorption, both intestinal and hepatic steatosis, and serum cholesterol and triglyceride concentrations of 38 and 63 mg/dl, respectively. Lipoprotein electrophoresis, Ouchterlony double diffusion, and electron microscopy demonstrated that normal low density lipoproteins (LDL: 1.006 < p < 1.063 g/ml) were absent. Lipoprotein particles in the p < 1.006-g/ml fraction were triglyceride rich, very large (93.2±35.1 nm), and contained the B48 but not the B-100 apoprotein; both species of apolipoprotein (apo) B were found in the parents' lipoproteins. These chylomicrons and chylomicron remnants were present even in the patient's fasting plasma, which suggested prolonged dietary fat absorption. Plasma levels of high density lipoprotein lipids and proteins were low, and the phosphatidylcholine/sphingomyelin ratio was reduced as in typical abetalipoproteinemia. The monosialylated form of apo C-III was not identified on polyacrylamide gel electrophoresis, which suggested that this protein was elaborated only with very low density lipoproteins (VLDL).A radioimmunoassay for apo B employing a polyclonal antisera to plasma LDL gave apparent plasma apo B levels of 0.6, 66, and 57 mg/dl in the patient and his father and mother, respectively. The displacement curve generated by the parents' VLDL and LDL did not differ from control lipoproteins. The patient's chylomicron-chylomicron remnant fraction displaced normal LDL over the entire radioimmunoassay range, but the efficiency of displacement was strikingly less than with B-100 containing lipoproteins. If the patient's B-48 protein is not qualitatively abnormal, these results confirm very limited immunochemical cross-reactivity between at least one major epitope on B-100 and the epitopes expressed on B-48.

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“…tarafından tanımlanmıştır. 6 Apo B, apolipoproteinlerin en büyük grubunu oluşturur. Apo B, VLDL ve şilomikronlar oluşumu ve salgılanması için önemlidir.…”

Section: Olgu Sunumuunclassified

Homozygous Familial Hypobetalipoproteinemia: Case Report

Sayin¹

2016

Turkiye Klinikleri J Intern Med

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Metabolic Studies in an Unusual Case of Asymptomatic Familial Hypobetalipoproteinemia with Hypoalphalipoproteinemia and Fasting Chylomicronemia

Abstract: A B S T R A C T A new kindred with asymptomatic hypobetalipoproteinemia is reported. The proband, age 67, differs from previously described cases in several respects: (a) unusually low levels of low density lipoprotein (LDL) cholesterol (4-8 mg/dl); (b) normal triglyceride levels; (c)

Cited by 76 publications

References 38 publications

Normotriglyceridemic abetalipoproteinemia. absence of the B-100 apolipoprotein.

Normotriglyceridemic abetalipoproteinemia. absence of the B-100 apolipoprotein.

Apolipoprotein B-100 deficiency. Intestinal steatosis despite apolipoprotein B-48 synthesis.

Homozygous Familial Hypobetalipoproteinemia: Case Report

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