MIC-Metabolic Information Centre

··· Diseases ··· Symptoms ··· Lab Parameters ··· Authors ··· Ramedis ··· BH4 Patient

Disease	RETT SYNDROME
OMIM	312750 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	mutations in the methyl-CpG binding protein-2 (MECP2)
Gene locus	Xq28
genetests.org	search search on genetest.org by MIM 312750 search search on genetest.org by RETT+SYNDROME Testing - View a listing of laboratories that provide clinical testing for this disorder Research - View a listing of laboratories that provide testing on a research basis only. Reviews - Read the GeneReview for this disorder Resources - View and print relevant consumer hea
Summary	1:15000 in Sweden X-linked (M0:F1) broad spectrum of phenotypes
Clinical 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
Abnormal Findings in serum	Very-long-chain fatty acids \| Significant : - decreased
Abnormal Findings in spinal fluid	2-Oxoglutaric acid Normal: 0.00-9.00 µmol/l \| Significant : - increased Glutamate Normal: 143.00-298.00 nmol/l \| Significant : 213.00-539.00 nmol/l Lactate, spinal fluid (secondary?) Normal: 0.50-2.10 mmol/l \| Significant : - normal/increased Pyruvate (secondary?) Normal: 0.00-102.00 µmol/l \| Significant : - increased
Abnormal Findings in urine	Orotic acid, after alanine load Normal: 0.00-11.00 mmol/mol creatinine \| Significant : - increased
Treatment	L-carnitine no specific treatment
Literature	There are 16 publications available. Click here to open the relevant RETT SYNDROME publications