Neuromuscular Aspect of Abetalipoproteinemia

1. NEUROMUSCULAR ASPECT OF
ABETALIPOPROTEINEMIA
Ade Wijaya, MD – October 2022

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

3. OVERVIEW OF ABETALIPOPROTEINEMIA

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

5. DIAGNOSTIC CRITERIA

6. TREATMENT
 Fat intake restriction
 Adequate calorie intake
 Medium-chain triglyseride administration
 Oral essential fatty acid administration
 High dose oral vitamin E administration
 High dose oral vitamin A administration
 Supplementation of vitamin D, vitamin K, iron,
folate, and vitamin B12
 Multidisciplinary care for neurological complications

7. SUMMARY
 Rare treatable inherited disase
 Hematological, opthalmological, and neuromuscular
 Ability to diagnose early is really important

8. THANK YOU