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Summary
RETT SYNDROME (RTT)
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
Rett syndrome is one of the most common causes of mental retardation in girls
Most RTT cases are sporadic, familial cases are rare
symptoms
Amino acid, spinal fluid
apnea
ataxia
behavior, autism or autistic-like
bone age, advanced
cardiac arrhythmia, dysrhythmia
constipation
cortical or cerebral atrophy
dystonia
female
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
Glutamic acid213.00539.00143.00298.00nmol/lcerebrospinal fluid
Lactic acid 0.502.10normal/increasedcerebrospinal fluid
Orotic acid 0.0011.00increasedurine
Pyruvic acid 0.00102.00increasedcerebrospinal 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
Saldova R,et al.N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 DeficiencyJ Proteome Res14104402-44122015
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
Dai D,et al.Liver disease in infancy caused by oxysterol 7 +¦-hydroxylase deficiency: successful treatment with chenodeoxycholic acidJ Inherit Metab Dis375851-8612014
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
Cheng JB,et al.Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver diseaseJ Clin Endocrinol Metab8841833-18412003
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
Kimura A,et al.Neonatal cholestasis with increased 3+¦-monohydroxy-+öÔüÁ bile acids in serum and urine: not necessarily primary oxysterol 7+¦ hydroxylase deficiencyClin Chim Acta413191700-17042012