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Article

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

Journal of clinical research in pediatric endocrinology - 25 Nov 2020

Soylu Ustkoyuncu Pembe, Gokay Songul, Eren Esra, Dogan Durmus, Yildiz Gokce, Yilmaz Aysegul, Turkan Mutlu Fatma

Abstract excerpt

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...

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Identifiers

PMID: 31914726
DOI: 10.4274/jcrpe.galenos.2019.2019.0144
PMCID: PMC7711635

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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