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Summary
LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (LBSL)
MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY
611105
OMIM = Online Medalian Inheritance of Men
137898
1q25.1
rare
autosomal recessive
symptoms
ataxia
cognitive impairment
contractures, joints
dysarthria
hyperreflexia
hypertonia, spasticity
hyporeflexia
leukoencephalopathy
motor retardation
muscle atrophy
muscle weakness
nystagmus
onset, childhood
onset, variable age
peripheral neuropathy
psychomotor retardation
laboratory finding
L-Lactic acid increasedplasma
MRS, brain, abnormalities -
Literature
Diez-Fernandez C,Ruefenacht V, H+ñberle JMutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural ConsiderationsHum Mutat385471-4842017
Bindi V,Eiroa HCitrullinemia type I with recurrent liver failure in a child.Arch Argent Pediatr1151e39-e422017
Quinonez SC,Thoene JGCitrullinemia Type ISource GeneReviews-« InternetSource GeneReviews-« Internet002016
Kose E,et al.Identification of three novel mutations in fourteen patients with citrullinemia type 1Clin Biochem5012686-6892017
Patel H,Kim J, Huncke TKGeneral anesthesia in a patient with citrullinemia using Precedex as an adjunct to prevent delayed emergenceJ Clin Anesth00403-4052016
Choi JJ,et al.Anesthetic experience of an adult male with citrullinemia type II: a case reportBMC Anesthesiol161922016