Abetalipoproteinemia is a disorder that interferes with the normal absorption of fat and Abetalipoproteinemia. Synonyms, Bassen-Kornzweig syndrome. Bassen-Kornzweig disease; Homozygous familial hypobetalipoproteinemia. Prevalence: <1 / 1 ; Inheritance: Autosomal recessive; Age of onset: Infancy. BASSEN FA, KORNZWEIG AL. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood. Apr;5(4)– [PubMed]; DRUEZ G .
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Only comments written in English can be processed. It is often associated with growth delay, hepatomegaly with steatosis, syndgome with steatorrhea, and fat malabsorption. Spastic ataxia, atypical retinitis pigmentosa, acanthocytosis, a low level of liposoluble vitamins, and major cytolysis and even cirrhosis can occur.
Other severe early familial hypobetalipoproteinemias are inherited in a codominant manner and are a result of mutations of two alleles of the Bassen-kprnzweig gene 2pp Other search option s Alphabetical list. Summary and related texts.
Check this box if you wish to receive a copy of your message. Bassen-Kornzweig disease Homozygous familial hypobetalipoproteinemia Prevalence: InfancyNeonatal ICD Antenatal diagnosis Prenatal diagnosis is possible when the causal mutations in both parents are known.
Genetic counseling Abetalipoproteinemia is inherited in a recessive manner. Management and treatment Management should be undertaken in specialized centers.
Health Illustrated Encyclopedia – Bassen-Kornzweig syndrome
Prognosis The prognosis is severe, with a significantly reduced life expectancy. Detailed information Professionals Summary information Slovakpdf Review article English Clinical practice guidelines Deutsch Guidance for genetic testing Englishpdf Clinical genetics review English Additional information Further information on this disease Classification s 7 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 6.
Health care resources for this disease Expert centres Diagnostic tests 27 Patient organisations 49 Orphan drug s 0.
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