Abstract
Ataxia is a common clinical feature in inherited metabolic disorders. There are more than 150 inherited metabolic disorders in patients presenting with ataxia in addition to global developmental delay, encephalopathy episodes, a history of developmental regression, coarse facial features, seizures, and other types of movement disorders. Seizures and a history of developmental regression especially are important clinical denominators to consider an underlying inherited metabolic disorder in a patient with ataxia. Some of the inherited metabolic disorders have disease specific treatments to improve outcomes or prevent early death. Early diagnosis and treatment affect positive neurodevelopmental outcomes, so it is important to think of inherited metabolic disorders in the differential diagnosis of ataxia.
Highlights
Coordination and balance are controlled by a complex network system including the basal ganglia, cerebellum, cerebral cortex, peripheral motor, and sensory pathways
Ataxia can be an important part of the clinical picture in inherited metabolic disorders which can guide physicians to targeted investigations to identify underlying causes
Maple syrup urine disease (MSUD) is an autosomal recessive disorder of branched chain amino acid catabolism due to branched-chain alpha-ketoacid dehydrogenase complex (BCKD) deficiency encoded by BCKDHA, BCKDHB, and DBT genes [7,8]
Summary
Coordination and balance are controlled by a complex network system including the basal ganglia, cerebellum, cerebral cortex, peripheral motor, and sensory pathways. GDD, movement disorder (ataxia, chorea, parkinsonism), seizures, hypotonia, myopathy, psychiatric illness, stroke-like episodes, peripheral neuropathy, retinopathy, cataracts, hearing loss, liver involvement, endocrine dysfunction, cardiac involvement. GDD, cognitive dysfunction, movement disorders (ataxia, dysarthria), seizures, psychiatric disturbance, hypotonia, spasticity, peripheral neuropathy, gallbladder involvement. GDD, cognitive dysfunction, movement disorder (ataxia, dystonia, dysarthria), seizures, spasticity, optic atrophy or oculomotor abnormalities. AGAT = Arginine:glycine amidinotransferase; cblC def = Cobalamin C deficienc; CSF = Cerebrospinal fluid; GABA = gamma-Aminobutyric acid; GAMT = guanidinoacetate methyltransferase; GLUT1 def = Glucose transporter 1 deficiency; HHH = hyperornithinemia hyperammonemia homocitrullinuria; MMA = methylmalonic acidemia; MPS = Mucopolysaccharidosis; MSUD = Maple syrup urine disease; MTHFR def = Methylenetetrahydrofolate reductase deficiency; NKH = Non-ketotic hyperglycinemia; PDH = Pyruvate dehydrogenase; PMM2-CDG= Phosphomannomutase 2-Congenital disorder of glycosylation; SOD = Sphincter of.
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