Visit Metagene.de!
Summary
ALEXANDER DISEASE
ALXDRD
203450
OMIM = Online Medalian Inheritance of Men
58
17q21.31
  • no specific treatment
rare
autosomal dominant
mutation in the gene encoding glial fibrillary acidic protein
3 subtypes of Alexander disease (infantile, juvenile, and adult onset) primary genetic disorder of astrocytes [Brenner M et al.] clinical findings are similar to those of Canavan disease. Adult onset AD is more common than previously thought and might even be the most common form of AD [Pareyson et al. 2008]
symptoms
ataxia
dysarthria
dysphagia
early death
feeding difficulties, poor feeding
hydrocephalus
hypertonia, spasticity
hypothermia
lethargy, drowsiness, malaise or sleep disorder
leukoencephalopathy
macrocephaly (large calvaria, >2 SD for age)
mental retardation
motor retardation
paraparesis/paraplegia
Rosenthal fibers
seizures
spastic diplegia/quadriplegia
vomiting
laboratory finding
alpha-B-crystallin increasedbrain
ultrasound, cranial, abnormalities -
MRI, brain, white matter abnormalities -
Protein, total, spinal fluid increasedcerebrospinal fluid
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Terespolsky DClarke TR, Blaser SIEvolution of neuroimaging changes in fucosidosis type IIJ Inherit Metab Dis190775-7811996
Kidowaki Tet al.Treatment of an infant with congenital sodium diarrhea by oral rehydrationActa Paediatr Jpn35049-521993
Hoffmann GFet al.Glutaryl-Coenzyme A dehydrogenase deficieny: a distinct encephalopathyPediatrics8801194-12031991
McCabe RBDisorders of glycerol metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101631-16521995
Sewell ACB+Âhles HJAcylcarnitines in intermediary metabolismEur J Pediatr1540871-8771995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Sewell ACB+Âhles HJAcylcarnitines in intermediary metabolismEur J Pediatr1540871-8771995
Fuchshuber Aet al.Holocarboxylase synthetase deficiency: early diagnosis and management of a new caseEur J Pediatr1520446-4491993
Coker Met al.Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolismJ Inherit Metab Dis190743-7511996
Weisser JHoffmann GF, Lipinski CG, Trefz FKExtrapyramidale Bewegungsstoerungen und Anarthrie als Erstmanifestation der Glutarazidaemie Iin L-¦+-ótschg J (Hrsg.): Aktuelle Neuropaediatrie 199000361-3651990
Pons Ret al.Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosisNeurology6271058-10652004
Al Makadma ASet al.Congenital sodium diarrhea in a neonate presenting as acute renal failurePediatr Nephrol190905-9072004
Hoffmann GFet al.Asymptomatische Makrocephalie als Fruehsymptom von Organoazidopathienin L-¦+-ótschg J (Hrsg.): Aktuelle Neuropaediatrie 199000292-2961990
Heymans HSWanders RJA, Schutgens RBHPeroxisomal disordersJ Inherit Metab Dis00421-4331995
Harding COet al.Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a reviewAm J Med Genet714384-3901997
Harada NAromatase deficiencyNippon Rinsho622368-3722004
Ling Set al.Endogenous estrogen deficiency reduces proliferation and enhances apoptosis-related death in vascular smooth muscle cells: insights from the aromatase-knockout mouseCirculation1094537-5432004
Coker Met al.Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolismJ Inherit Metab Dis190743-7511996