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

··· Diseases ··· Symptoms ··· Lab Parameters ··· Authors ··· Ramedis ··· BH4 Patient

Disease	ABETALIPOPROTEINEMIA, BASSEN-KORNZWEIG-SYNDROME, ACANTHOCYTOSIS (ABL)
Synonym	ABETALIPOPROTEINEMIA; ABETALIPOPROTEINEMIA
OMIM	200100 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	microsomal triglyceride transfer protein
Gene locus	4q22-q24
genetests.org	search search on genetest.org by MIM 200100
Summary	rare (~100 cases) autosomal recessive
Clinical symptoms	anemia ataxia cardiac arrhythmia, dysrhythmia cardiomyopathy defect of deep tendon reflexes dysarthria failure to thrive feeding difficulties, poor feeding kyphoskoliosis liver involvement (acute, chronic, hepatitis) malabsorption mental retardation motor retardation muscle weakness night blindness nystagmus onset, newborn peripheral neuropathy progressive neurologic defect retinitis pigmentosa steatorrhea tremor or twitching vomiting
Abnormal Findings in blood	Acanthocytosis \| Significant : - Hemoglobine Normal: 12.00-15.00 g/dl \| Significant : -8.00 g/dl
Abnormal Findings in plasma	Apolipoprotein \| Significant : - not detectable
Abnormal Findings in serum	Cholesterol Normal: 3.10-5.20 mmol/l \| Significant : -2.50 mmol/l Transaminases Normal: 10.00-30.00 U/l \| Significant : - normal/increased Triglycerides Normal: 30.00-99.00 mg/dl \| Significant : 10.00-30.00 mg/dl Vitamin A Normal: 0.70-1.50 µmol/l \| Significant : - decreased Vitamin E Normal: 7.00-21.00 µmol/l \| Significant : - decreased
Treatment	low-fat diet medium-chain triglycerides (MCT) vitamin A vitamin E (alpha-tocopherol)
Literature	There are 10 publications available. Click here to open the relevant ABETALIPOPROTEINEMIA, BASSEN-KORNZWEIG-SYNDROME, ACANTHOCYTOSIS (ABL