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Summary
MOHR-TRANEBJAERG SYNDROME MTS
DYSTONIA-DEAFNESS SYNDROME DDS JENSEN SYNDROME
304700
OMIM = Online Medalian Inheritance of Men
52368
Xq22.1
rare
X-linked recessive
mutation in the TIMM8A (DDP) gene

symptoms
behavior, abnormal or bizarre, confusion
blindness, visual loss, visual impairment
bone fractures
dementia
dysarthria
dysphagia
dystonia
hearing defect, deafness
hyperreflexia
mental retardation
myopia
onset, childhood
optic atrophy
photophobia or photosensitive defect in light-exposed area
tremor or twitching
laboratory finding
Literature
Dimer NW,et al.D-glyceric aciduriaAn Acad Bras Cienc Suppl8721409-14142015
Lorenzoni PJ,et al.When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?Arq Neuropsiquiatr7311959-9672015
Haeberle J,et al.Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance.Orphanet J Rare Dis70482012
Haeberle J,et al.Natural course of glutamine synthetase deficiency in a 3 year old patientMol Genet Metab103189-912011
Hu L,et al.Secondary NAD+ deficiency in the inherited defect of glutamine synthetaseJ Inherit Metab Dis3861075-10832015
Sass JO,et al.D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK)Hum Mutat31121280-12852010