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Movement Disorders Clinical Practice Mar 2023
PubMed: 36949797
DOI: 10.1002/mdc3.13626 -
Journal of Clinical Research in... Nov 2020Abetalipoproteinaemia (ABL) is an autosomal recessive disorder characterized by very low plasma concentrations of total cholesterol and triglyceride (TG). It results...
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 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 gene.
Topics: Abetalipoproteinemia; Carrier Proteins; Female; Humans; Hypothyroidism; Infant; Mutation; Prognosis
PubMed: 31914726
DOI: 10.4274/jcrpe.galenos.2019.2019.0144 -
Journal of Clinical Research in... Jun 2020
Topics: Abetalipoproteinemia; Genes; Humans; Hypothyroidism; Mutation; Thymine Nucleotides
PubMed: 32157853
DOI: 10.4274/jcrpe.galenos.2020.2020.0015 -
JPGN Reports Feb 2021Supplemental Digital Content is available in the text.
Supplemental Digital Content is available in the text.
PubMed: 37206948
DOI: 10.1097/PG9.0000000000000049