Visit Metagene.de!
Summary
ABETALIPOPROTEINEMIA, BASSEN-KORNZWEIG-SYNDROME, ACANTHOCYTOSIS (ABL)
ABETALIPOPROTEINEMIA ABETALIPOPROTEINEMIA
200100
OMIM = Online Medalian Inheritance of Men
14
4q23
  • low-fat diet
  • medium-chain triglycerides (MCT)
  • vitamin A
  • vitamin E (alpha-tocopherol)
rare (~100 cases)
autosomal recessive
mutation in the MTP gene
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
laboratory finding
Hemoglobine 8.0012.0015.00g/dlblood
Cholesterol 2.503.105.20mmol/lserum
Triglycerides10.0030.0030.0099.00mg/dlserum
Apolipoprotein not detectableplasma
Vitamin E 7.0021.00decreasedserum
Vitamin A 0.701.50decreasedserum
Transaminases 10.0030.00normal/increasedserum
Acanthocytosis blood
Low-density lipoprotein (LDL)
Literature
Schulze Aet al.Sakaguchi reaction: a useful method for screening guanidinoacetate-methyltransferase deficiencyJ Inherit Metab Dis1907061996
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Brismar JOzand PTCT and MR of the brain in the diagnosis of organic acidemias. Experience from 107 patientsBrain Dev Suppl160104-1241995
Bornholdt Det al.Mutational spectrum of NSDHL in CHILD syndromeJ Med Genet422e172005
Walton DSKatsavounidou G, Lowe CUGlaucoma with the oculocerebrorenal syndrome of LoweJ Glaucoma143181-1852005
Schindler Det al.Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiencyN Engl J Med320017351989
Konig Aet al.Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndromeAm J Med Genet900339-3462000
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Hummel Met al.Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL geneAm J Med Genet A1223246-2512003
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Vila MRet al.Reversion of mtDNA depletion in a patient with TK2 deficiencyNeurology6071203-12052003
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Peter MCongenital adrenal hyperplasia: 11beta-hydroxylase deficiencySemin Reprod Med203249-2542002
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Grange DKet al.CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomeraseAm J Med Genet904328-3352000
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991