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

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Abstract

Abetalipoproteinaemia (ABL) is an autosomal recessive disorder characterized by very low plasma concentrations of total cholesterol and triglyceride (TG). It results from mutations in the gene encoding microsomal TG transfer protein (MTTP). A nine-month-old girl was admitted to hospital because of fever, cough, diarrhea and failure to thrive. She had low cholesterol and TG levels according to her age. The peripheral blood smear revealed acanthocytosis. Thyroid function test showed central hypothyroidism. Cranial magnetic resonance imaging revealed the retardation of myelination and pituitary gland height was 1.7 mm. A homozygous novel mutation [c.506A>T (p.D169V)] was detected in the MTTP gene. Vitamins A, D, E, and K and levothyroxine were started. The coexistence of ABL and central hypothyroidism has not previously been reported. A homozygous novel mutation [c.506A>T (p.D169V)] was detected in the MTTP gene.

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Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.

Mathilde Di Filippo, Philippe Moulin, Pascal Roy … (2014)

Non-alcoholic steatohepatitis leading to fibrosis occurs in patients with abetalipoproteinemia (ABL) and homozygous or compound heterozygous familial hypobetalipoproteinemia (Ho-FHBL). We wanted to establish if liver alterations were more frequent in one of both diseases and were influenced by comorbidities.

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Abetalipoproteinemia: two case reports and literature review

Rola Zamel, Razi Khan, Rebecca L Pollex … (2008)

Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, coagulopathy, posterior column neuropathy and myopathy. ABL results from mutations in the gene encoding the large subunit of microsomal triglyceride transfer protein (MTP; OMIM 157147). To date at least 33 MTP mutations have been identified in 43 ABL patients. We describe the clinical progress of two patients, both currently in the fifth decade of life, who were diagnosed with ABL as children and were treated with high oral doses of fat soluble vitamins, including vitamin E over the last three decades. Treatment appears to have been associated with arrest of the neuropathy and other complications in both patients. Because pharmacologic inhibition of MTP is being developed as a novel approach to reduce plasma cholesterol for prevention of cardiovascular disease, defining the long-term clinical features of patients with a natural deficiency in MTP might provide some insight into the possible effects of such treatments. We review the range of clinical, biochemical and molecular perturbations in ABL.

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Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.

Jooho Lee, Robert Hegele (2014)

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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Journal

Journal ID (nlm-ta): J Clin Res Pediatr Endocrinol

Journal ID (iso-abbrev): J Clin Res Pediatr Endocrinol

Journal ID (publisher-id): JCRPE

Title: Journal of Clinical Research in Pediatric Endocrinology

Publisher: Galenos Publishing

ISSN (Print): 1308-5727

ISSN (Electronic): 1308-5735

Publication date (Print): December 2020

Publication date (Electronic): 25 November 2020

Volume: 12

Issue: 4

Pages: 427-431

Affiliations

[1 ]Kayseri City Hospital, Clinic of Pediatric Nutrition and Metabolism, Kayseri, Turkey

[2 ]Kayseri City Hospital, Clinic of Pediatric Gastroenterology, Hepatology and Nutrition, Kayseri, Turkey

[3 ]Kayseri City Hospital, Clinic of Pediatric Endocrinology, Kayseri, Turkey

[4 ]Kayseri City Hospital, Clinic of Pediatrics, Kayseri, Turkey

[5 ]Kayseri City Hospital, Clinic of Pediatric Genetic, Kayseri, Turkey

[6 ]Kayseri City Hospital, Clinic of Pediatric Hematology and Oncology, Kayseri, Turkey

Author notes

* Address for Correspondence: Kayseri City Hospital, Clinic of Pediatric Nutrition and Metabolism, Kayseri, Turkey Phone: +90 352 315 77 00/40176 E-mail: drpembesoylu@ 123456erciyes.edu.tr

Author information

Pembe Soylu Ustkoyuncu https://orcid.org/0000-0001-9867-1280

Songül Gokay https://orcid.org/0000-0002-4564-0023

Esra Eren https://orcid.org/0000-0001-7506-4672

Durmus Dogan https://orcid.org/0000-0001-5369-8797

Gokce Yıldız https://orcid.org/0000-0002-9891-2897

Aysegul Yılmaz https://orcid.org/0000-0002-5312-2744

Fatma Turkan Mutlu https://orcid.org/0000-0003-4593-8679

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Publisher ID: 34570

DOI: 10.4274/jcrpe.galenos.2019.2019.0144

PMC ID: 7711635

PubMed ID: 31914726

SO-VID: 04096bb9-c64b-46dd-84f9-c98787ca75e0

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This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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

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Most cited references 18

Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.

Abetalipoproteinemia: two case reports and literature review

Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.

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