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Summary
RETT SYNDROME
RTT AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE
312750
OMIM = Online Medalian Inheritance of Men
778
Xq28
  • L-carnitine
  • no specific treatment
rare (1:10.000 - 1:15.000 females)
X-linked dominant
mutations of the X-linked MECP2 gene
broad spectrum of phenotypes
symptoms
Amino acid, spinal fluid
apnea
ataxia
behavior, autism or autistic-like
bone age
cardiac arrhythmia, dysrhythmia
constipation
cortical or cerebral atrophy
dystonia
hand movements, abnormal, stereotyped
hypertonia, spasticity
lethargy, drowsiness, malaise or sleep disorder
mental retardation
microcephaly (<2 SD for age)
motor retardation
normal at birth
onset, childhood
onset, infancy
respiratory alkalosis
seizures
short stature
skoliosis, kyphoskoliosis
speech development, delayed, abnormal
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
L-Glutamic acid213.00539.00143.00298.00nmol/lcerebrospinal fluid
L-Lactic acid 0.502.10normal/increasedcerebrospinal fluid
Orotic acid 0.0011.00increasedurine
Pyruvic acid 0.00102.00increasedcerebrospinal fluid
Thiamine pyrophosphate 0.009.00increasedcerebrospinal fluid
EEG abnormalities -
Very-long-chain fatty acids decreasedserum
Literature
Salih MA,et al.Preimplantation genetic diagnosis in isolated sulfite oxidase deficiencyCan J Neurol Sci401109-1122013
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
Del Rizzo M,et al.Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiencyMol Genet Metab1084263-2662013
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
Rocha S,et al.Sulfite oxidase deficiency--an unusual late and mild presentationBrain Dev362176-1792014
Scolamiero E,et al.Targeted metabolomics in the expanded newborn screening for inborn errors of metabolismMol Biosyst1161525-15352015
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
Law CY,et al.NMR-based urinalysis for beta-ketothiolase deficiencyClin Chim Acta4380222-2252015
Knip MAkerblom HKPlasma C-peptide and insuline in neonates, infants and childrenJ Pediatr990103-1051981
Westerlinck H,et al.Sulfite oxidase deficiency in a newbornJBR-BTR972113-1142014
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
Bosley T,et al.Neurologic injury in isolated sulfite oxidase deficiencyCan J Neurol Sci41142-482014