2. INTRODUCTION
Abetalipoproteinemia (ABL):
Rare inherited disease
Absence of plasma apolipoprotein (apo) B-containing
lipoproteins and fat-soluble vitamins in the plasma
o Mutation of Microsomal Triglyseride Transfer
Protein (MTTP) gene absent of MTTP in the
intestinal mucosa
4. NEUROMUSCULAR SYMPTOMS
Vitamin E deficiency demyelination
spinocerebellar ataxia and neuropathy
Neural degeneration and intrinsic myositis
myopathy
Initial symptoms: Diminution of deep tendon
reflexes (first few years – 5th decade of life)
Delayed intellectual development, tremor,
nystagmus, slurred speech
Magnetic resonance imaging (MRI) of the
spinocerebellar region may show degeneration
If left untreated progressive to wheelchair / death