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Summary
AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (AUTSX6)
EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY TMLHED
300872
OMIM = Online Medalian Inheritance of Men
Xq28
X-linked recessive
mutation in the TMLHE gene
symptoms
behavior, autism or autistic-like
developmental regression
intellectual disability/intellectual developmental disorder (ID/ IDD)
onset, childhood
speech development, delayed, abnormal
laboratory finding
Trimethyllysine +€mol/lplasma
L-Carnitine +€mol/lplasma
Literature
Dumitrescu AM,et al.A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter geneAm J Hum Genet741168-1752004
Tonduti D,et al.MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent featuresJ Child Neurol286795-8002013
Moss HG,et al.N-Acetylcysteine rapidly replenishes central nervous system glutathione measured via magnetic resonance spectroscopy in human neonates with hypoxic-ischemic encephalopathyJ Cereb Blood Flow Metab002018
Rodrigues F,et al.Hypotonic male infant and MCT8 deficiency - a diagnosis to think aboutBMC Pediatr1402522014
Gillberg C,et al.Febrile Seizures and Epilepsy: Association With Autism and Other Neurodevelopmental Disorders in the Child and Adolescent Twin Study in SwedenPediatr Neurol74080-862017