ABETALIPOPROTEINEMIA, BASSEN-KORNZWEIG-SYNDROME, ACANTHOCYTOSIS (ABL)

Question 1

What is  ABETALIPOPROTEINEMIA, BASSEN-KORNZWEIG-SYNDROME, ACANTHOCYTOSIS (ABL)?

Accepted Answer

rare (~100 cases)
autosomal recessive
mutation in the MTP gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

A-Betalipoproteinämie (Bassen-Kornzweig-Syndrom)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 200100

Question 4

Which enzymes are involved?

Accepted Answer

Microsomal triglyceride transfer protein large subunit

Disease	ABETALIPOPROTEINEMIA, BASSEN-KORNZWEIG-SYNDROME, ACANTHOCYTOSIS (ABL)
Synonym	ABETALIPOPROTEINEMIA; ABETALIPOPROTEINEMIA
OMIM	200100 OMIM = Online Mendelian Inheritance of Men
Orphanet	14
Protein (UniProt)	Microsomal triglyceride transfer protein large subunit
Gene locus	4q23
ICD	E78.6
Summary	rare (~100 cases) autosomal recessive mutation in the MTP gene
Laboratory findings	Apolipoprotein (Apo B) dec (plasma) Cholesterol dec (serum) HDL-Cholesterol dec (urine) Hemoglobine dec (blood) LDL-Cholesterol dec (plasma) Low-density lipoprotein (LDL) () Transaminases (ASAT/ALAT) normal/inc (serum) Triglycerides dec (serum) Vitamin A dec (serum) Vitamin E dec (serum)
Symptoms	Acanthocytosis anemia ataxia cardiac arrhythmia, dysrhythmia cardiomyopathy defect of deep tendon reflexes dysarthria failure to thrive feeding difficulties, poor feeding growth retardation, poor growth hemolytic anemia liver involvement or dysfunction malabsorption mental retardation microcephaly (<2 SD for age) motor retardation muscle weakness night blindness nystagmus onset, neonatal peripheral neuropathy progressive neurologic defect retinitis pigmentosa retinopathy skoliosis, kyphoskoliosis steatorrhea tremor or twitching vomiting