hartnup disease/ataxia

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[Adult-onset Hartnup disease presenting with neuropsychiatric symptoms but without skin lesions].

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Logi sisse

Hartnup disease is an inborn abnormality of renal and intestinal transport involving the neutral amino acids. Intermittent pellagra-like rash, attacks of cerebellar ataxia and psychiatric disturbance are characteristic symptoms of this disease. We described here a patient with adult-onset Hartnup

Ataxia.

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Logi sisse

The approach to the child with ataxia requires a detailed history and careful general and neurological examination as well as selected blood work and brain imaging and increasingly available genetic testing for inherited ataxias that usually have an episodic or progressive presentation. The

Intermittent dystonia in Hartnup disease.

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Logi sisse

A 6-month-old girl developed intermittent dystonic posture of the legs and eczematous dermatitis without ataxia. Qualitative and quantitative urine amino acid testing confirmed the diagnosis of Hartnup disease. Cranial computed tomography, electroencephalogram, electromyogram/nerve conduction study,

Hartnup Disease

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Logi sisse

Amino acids are building blocks for protein. There are three types of amino acids based on the polarity of the side chain. It includes acidic, basic, and neutral amino acids. Hartnup disease is an autosomal recessive inherited nutritional disorder due to decreased absorption of neutral amino acids

Hartnup disease.

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Logi sisse

A 10 year old girl presented with clinical signs and symptoms of the triad of niacin deficiency namely skin eruptions, ataxia, mental changes and diarrhea. Although this deficiency could be nutritional where maize is a staple diet, this patient had neutral aminoaciduria which indicated a defective

[Clinical picture of Hartnup disease. Without urine amino acids or any other identified metabolic disorder (a new entity)].

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Logi sisse

Harthnup disease clinical picture without aminoaciduria or other identified metabolic disturb (New entity?). The authors present a patient with clinical picture superposed to the Hartnup disease's, a rare, autosomic and recessive metabolic disturbance, characterized by typical aminoaciduria

Familial pellagra-like skin rash with neurological manifestations.

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Logi sisse

A 14-year-old boy of Arabic origin presented with a pellagra-like rash and neurological manifestations including ataxia, dysarthria, nystagmus, and coma. There was a striking response to oral nicotinamide. The laboratory findings were not typical of Hartnup disease: aminoaciduris and indicanuria

[Clinical studies of pediatric malabsorption syndromes].

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Logi sisse

Multiple cases with various types of pediatric malabsorption syndromes were evaluated. The clinical manifestations, laboratory findings, pathophysiology, and histopathological descriptions of each patient were analyzed in an effort to clear the pathogenesis of the malabsorption syndromes and the

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