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Summary
RETT SYNDROME
312750
OMIM = Online Medalian Inheritance of Men
778
Xq28
  • L-carnitine
  • no specific treatment
1:15000 in Sweden X-linked (M0:F1) broad spectrum of phenotypes
symptoms
Amino acid, spinal fluid
ataxia
behavior, autism or autistic-like
bone age
cardiac arrhythmia, dysrhythmia
hand movements, abnormal, stereotyped
hypertonia, spasticity
microcephaly
motor retardation
normal at birth
onset, child
onset, infant
respiratory alkalosis
seizures
speech development, delayed, abnormal
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
Glutamic acid, Glutamate213.00539.00143.00298.00nmol/lspinal fluid
Lactate 0.502.10normal/increasedspinal fluid
Orotic acid 0.0011.00increasedurine
Pyruvate, Pyruvic acid 0.00102.00increasedspinal fluid
2-Oxoglutaric acid 0.009.00increasedspinal fluid
EEG abnormalities -
Very-long-chain fatty acids decreasedserum
Literature
Barth PGHoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, Duran M, Valk J, Schutgens RBH, Trefz FK, Reimann G, HartunL-2-Hydroxyglutaric acid Acidemia: A Novel Inherited Neurometabolic DiseaseAnnals of Neurology32166-711992
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Knip MAkerblom HKPlasma C-peptide and insuline in neonates, infants and childrenJ Pediatr990103-1051981
Duran MBaumgartner ER, Sourmala TM, Bruinvis L, Dorland L, Smeitink JAM, Poll-The BTCerebrospinal fluid organic acids in Biotinidase deficiencyJ Inherit Metab Dis160513-5161993
Kelley RIQuantification of pipecolic acid in plasma and urine by isotope-dilution gas chromatography/mass spectrometryTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York014205-2481991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Hirschhorn RGlycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiencyThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202443-24641995
Knip MAkerblom HKPlasma C-peptide and insuline in neonates, infants and childrenJ Pediatr990103-1051981
Heymans HSWanders RJA, Schutgens RBHPeroxisomal disordersJ Inherit Metab Dis00421-4331995
Duran MBaumgartner ER, Sourmala TM, Bruinvis L, Dorland L, Smeitink JAM, Poll-The BTCerebrospinal fluid organic acids in Biotinidase deficiencyJ Inherit Metab Dis160513-5161993