An 8 month old boy has poor weight gain, chronic diarrhea, and abdominal distention. His parents report greasy foul smelling stools since starting formula feeds. Examination shows loss of deep tendon reflexes and impaired vibration sense. Peripheral smear reveals acanthocytes. Deficiency of which of the following proteins is most likely responsible?
- A)LDL receptor
- B)Apolipoprotein CII
- C)Microsomal triglyceride transfer proteinGABARITO
- D)Apolipoprotein E
- E)Lipoprotein lipase
Explicação
Abetalipoproteinemia is caused by microsomal triglyceride transfer protein deficiency, preventing formation of apoB containing lipoproteins. Infants develop fat malabsorption, steatorrhea, deficiency of fat soluble vitamins, acanthocytosis, and progressive neu... Ver explicação completa e trilha adaptativa →