J Clin Res Pediatr Endocrinol. 2020; 12(4): 427-431 | DOI: 10.4274/jcrpe.galenos.2019.2019.0144

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

Pembe Soylu Ustkoyuncu¹, Songül Gokay¹, Esra Eren², Durmus Dogan³, Gokce Yýldýz⁴, Aysegul Yýlmaz⁵, Fatma Turkan Mutlu^6
1Kayseri City Hospital, Clinic of Pediatric Nutrition and Metabolism, Kayseri, Turkey
²Kayseri City Hospital, Clinic of Pediatric Gastroenterology, Hepatology and Nutrition, Kayseri, Turkey
³Kayseri City Hospital, Clinic of Pediatric Endocrinology, Kayseri, Turkey
⁴Kayseri City Hospital, Clinic of Pediatrics, Kayseri, Turkey
⁵Kayseri City Hospital, Clinic of Pediatric Genetic, Kayseri, Turkey
⁶Kayseri City Hospital, Clinic of Pediatric Hematology and Oncology, Kayseri, Turkey

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.

Keywords: Abetalipoproteinaemia, central hypothyroidism, MTTP gene, novel mutation

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