Ataxia intermittent

All defects in urea synthesis result in ammonia intoxication. Intoxication is more severe when the metabolic block occurs at reactions 1 or 2 since some covalent linking of ammonia to carbon has already occurred if citrulline can be synthesized. Clinical symptoms common to all urea cycle disorders include vomiting, avoidance of high-protein foods, intermittent ataxia, irritability, lethargy, and mental retardation. The clinical features and treatment of all five disorders discussed below are similar. Significant improvement and minimization of brain damage accompany a low-protein diet ingested as frequent small meals to avoid sudden increases in blood ammonia levels. 

Patients with partial enzymatic deficiencies may present later in life with intermittent ketoacidosis, prostration and recurrent ataxia. The plasma concentrations of BCAA are elevated during these episodes but they maybe normal or near-normal during the periods when patients are metabolically compensated. 

Hartnup disorder exhibits symptoms similar to pellagra (niacin deficiency), characterized by three of the "four D s" diarrhea, dermatitis (a red, scaly rash), dementia (intermittent ataxia), and death... 

A 38-year-old Caucasian woman, who had taken heroin vapor 2 weeks before, developed confusion, ataxia, and urinary incontinence. She was afebrile and spoke with a slow low-volume monotonous voice. She had marked truncal ataxia with absent postural reflexes, cogwheel rigidity in her limbs, and marked bradykine-sia. She had used non-prescription amfetamine up to 4 g/day intermittently for 8 years. After a bout of depression, she came under the care of a psychiatrist and stopped taking amfetamine after she was given chlorpromazine and diazepam. She then started using... 

Berger et al. (212) studied the toxicity of single doses of dlethylamlnoett l benzllate In mice and monkeys and Its general actions on several functional systems. In the monkey, an Intravenous dose of 1 mg/kg resulted in mydriasis and some decrease In voluntary movement. A dose of 2 mg/kg Induced ataxia with occasional convulsive Jerks. A dose of 6 mg/kg Induced Intermittent clonic convulsions In one monkey the convulsive state lasted for about 10 min and was followed by a depressed state lasting for over an hour. Pupillary dilatation, the effect of longest duration, sometimes persisted for as long as 20 h. 

Episodic ataxia is a rare inherited syndrome of intermittent ataxia of early onset with no known inborn errors of metabolism. There are two distinct forms, both with episodic attacks of ataxia responsive to aceta2olamide, with features reminiscent of periodic paralysis and suggestive of underlying ion channel abnormalities. 

In dogs exposed intermittently to 25 ppm 1,1-dimethylhydrazine, depression, ataxia, salivation, emesis, and seizures were noted after 3 days (Rinehart et al. 1960). These effects were not observed in dogs... 

Blass, J.P., Lonsdale, D., Uhlendorf, B.W. and Horn, E. (1971b), Intermittent ataxia with pyruvate decarboxylase deficiency. Lancet, i, 1302. 

Lonsdale, D., Faulkner, W.R., Price, J.W. and Smelby, R.R. (1969), Intermittent cerebellar ataxia associated with hyperpyruvic acidemia, hyperalaninemia, and hyperalaninuria. Pediatrics, 43,1025. 

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