abetalipoproteinemia/gin diare

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Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.

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Monogenic hypobetalipoproteinemias include three disorders: abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD) with recessive transmission and familial hypobetalipoproteinemia (FHBL) with dominant transmission. We investigated three unrelated Tunisian children born from

The diagnosis and outcomes of persistent diarrhea in infants aged 0-24 months--a Turkish cohort study.

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OBJECTIVE Infantile persistent diarrhea series are not well documented in the literature. Evaluating the literature, the aim of this study was to document persistent diarrhea cases followed in our center and to constitute a practical diagnostic algorithm for the pediatrician by means of surveying

The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations.

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Familial hypobetalipoproteinemia is a codominant disorder characterized by low plasma levels of low-density lipoprotein cholesterol and apolipoprotein B (apoB), which in ∼50% of the cases is due to mutations in APOB gene. In most cases, these mutations cause the formation of truncated apoBs of

Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene.

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BACKGROUND Abetalipoproteinemia (ABL; OMIM 200100) is a rare monogenic disorder of lipid metabolism characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and almost complete absence of apolipoprotein B (apoB). ABL results from genetic

Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia.

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Pathological examination was carried out of the skeletal muscle of an 8-year-old boy with abetalipoproteinemia. The patient complained of diarrhea, and showed a deficiency of betalipoprotein, decreased fat-soluble vitamins, acanthocytosis and a mild increase in serum creatine kinase. The prominent

Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation.

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Abetalipoproteinemia (ABL) is a rare autosomal disorder characterized by extremely low levels of plasma lipids and apolipoprotein B (apoB) with a variable phenotype. Mutations in the MTP gene encoding the microsomal triglyceride transfer protein (MTP) cause the disease. A five-month-old boy, born

[Microsomal triglyceride transfer protein and abetalipoproteinemia].

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Microsomal triglyceride transfer protein (MTP) is a dimeric protein complex consisting of protein disulfide isomerase and a unique 97 kDa subunit. In vitro, MTP accelerates the transport of triglyceride, cholesteryl ester, and phospholipid between vesicles. It was recently demonstrated that

A Male Infant with Abetalipoproteinemia: A Case Report from Iran.

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Abetalipoproteinemia (ABL) is a very rare autosomal recessive disorder caused by mutations in the microsomal triglyceride transfer protein gene (MTTP). ABL is characterized by lack of lipids and apolipoprotein B (apoB) in plasma, fat malabsorption and various clinical manifestations. We describe a

Abetalipoproteinemia: a case report.

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Abetalipoproteinemia is a rare autosomal recessive disorder characterized by steatorrhea, poor weight gain, acanthocytosis and retinitis pigmentosa. Here we peresent a six-month-old patient with abetaliporoteinemia. He had a history of chronic diarrhea from the first month of life. He was cachectic

Rickets and dysmorphic findings in a child with abetalipoproteinemia.

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Abetalipoproteinemia (ABL) is characterized by acanthocytosis, hypocholesterolemia, and steatorrhea. Here, we describe a case of ABL associated with rickets and dysmorphic findings and the subsequent therapeutic course in an 18-month-old male referred for evaluation for failure to thrive and chronic

Intractable diarrhea of infancy: 10 years of experience.

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OBJECTIVE Intractable diarrhea of infancy (IDI), a group of prolonged diarrheal disorders, is difficult to diagnose and manage. We documented general features of patients and the causes of IDI. METHODS The present retrospective study included 60 hospitalized patients with IDI ages 0 to 24 months

[Familial hypobetalipoproteinemia with steatorrhea and malabsorption].

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In a family in which the father was the mother's uncle, 3 of the 7 children were affected by a syndrome of malabsorption with various clinical symptoms. Diarrhea appeared in 2 of the children at birth, and in the third child at six months. The diarrhea led to failure-to-thrive, muscular wasting and

Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism

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Abetalipoproteinaemia is an autosomal recessive disorder characterized by very low plasma concentrations of total cholesterol and triglyceride. It results from mutations in the gene encoding microsomal triglyceride transfer protein. Nine-month-old girl was admitted to our hospital because of fever,

[Clinical studies of pediatric malabsorption syndromes].

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Multiple cases with various types of pediatric malabsorption syndromes were evaluated. The clinical manifestations, laboratory findings, pathophysiology, and histopathological descriptions of each patient were analyzed in an effort to clear the pathogenesis of the malabsorption syndromes and the

A proposed model for the assembly of chylomicrons.

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The intestine synthesizes very low density lipoproteins (VLDL) and chylomicrons (CM) to transport fat and fat-soluble vitamins into the blood. VLDL assembly occurs constitutively whereas CM assembly is a characteristic property of the enterocytes during the postprandial state. The secretion of CM is

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