Abetalipoproteinemia; ABL

What is Abetalipoproteinemia; ABL?

Abetalipoproteinemia; ABL is a rare disease. It is also known as Acanthocytosis Bassen-kornzweig Syndrome Microsomal Triglyceride Transfer Protein Deficiency Mtp Deficiency.

The primary defect is a deficiency of apo B which is a major constituent of beta-lipoprotein. Those affected produce no circulating apo B containing lipoproteins and these include chylomicrons and very low density lipoprotein. The disorder often presents in infancy with symptoms related to malabsorption. These symptoms mostly respond to treatment and then a decade or more later patients present with a peripheral neuropathy, a cerebellar ataxia and a pigmentary retinopathy. In addition the pyramidal tracts might be involved, and upgoing plantar responses are common. Cardiac abnormalities, especially a dysrhythmia, make this condition an important differential diagnostic consideration in Friedreich's ataxia.
Mutations have been demonstrated in the microsomal triglyceride transfer protein (MTP) (Sharp et al., 1993; Shoulders et al., 1993; Narcisi et al., 1995).
Matsuo et al., (1994) reported a 6-year-old boy with a variant of the condition. The clinical features were similar to abetalipoproteinaemia but there was additional hearing loss and apolipoprotein B-100 with a normal molecular weight was found. There was significant vitamin E deficiency. Some children with this condition are dysmorphic and have a thin upper lip, short nose, smooth philtrum and hypertelorism (Solomon et al., 2009).

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* This information is courtesy of the L M D.

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What gene changes cause Abetalipoproteinemia; ABL?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 200100 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
MTTP - 4q23
MTTP -

What are the main symptoms of Abetalipoproteinemia; ABL?

The typical symptoms of the syndrome are:
Abetalipoproteinemia, Muscular hypotonia, Abnormality of movement, Abnormality of retinal pigmentation, CNS demyelination, Ataxia, Acanthocytosis, Incoordination, Visual impairment, Malabsorption, Peripheral demyelination, Fat malabsorption, Autosomal recessive inheritance, Retinopathy, Pigmentary retinal degeneration, Reduced tendon reflexes

How does someone get tested for Abetalipoproteinemia; ABL?

The initial testing for Abetalipoproteinemia; ABL can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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