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What is Abetalipoproteinaemia?
Abetalipoproteinaemia is defined as a rare autosomal recessive disease characterized by a defect in the assembly or secretion of plasma lipoproteins that contain apolipo-protein B and in the synthesis of serum lipoproteins containing apolipoprotein B, such as chylomicrons, VLDL and LDL. In the plasma, there is an absence of beta (low density) lipoprotein and hence the name abetalipoproteinaemia. The retinal and neurological complications of abetalipoproteinaemia may be preventable by replacing vitamins A and E from an early age, but their role in adult presentations is less clear. The retinopathy is thought to be partly caused by vitamin A deficiency. Vitamin A and E therapy may be useful in arresting retinal deterioration in abetalipoproteinaemia. Abetalipoproteinaemia condition is caused by a defect in the gene that makes the protein complex microsomal triglyceride transfer protein and In Britain, abetalipoproteinaemia affects only one person in 100 000. A comparison of this sequence to corresponding genomic sequences from two abetalipoproteinaemic subjects revealed a homozygous frameshift mutation in one subject and a homozygous nonsense mutation in the other.
Child with foul smelling fatty diarrhoea, low body weight, retarded growth, poor coordination, abnormal sensations and pigmented retina at back of the eye. More signs and presentation of this disorder includes Retinitis pigmentosa, steatorrhoea, fatty liver, ataxia, acantocytosis, deficiency in fat-soluble vitamins.