adipic acid/seizures

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5 matokeo

[Alpha-amino adipic aciduria: a rare psychomotor syndrome].

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

A 3.5-year-old boy with developmental motor retardation, hypotonicity, and severe speech disturbance had alpha-amino adipic acid in his blood and very high levels in his urine. In only 20 cases has this catabolite of lysine and hydroxylysine been found in high concentrations in urine, due to

alpha-Aminoadipic aciduria and persistence of fetal haemoglobin in an oligophrenic child.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

The case of a mentally retarded girl with a number of dysmorphic features, Raynaud's phenomenon, hypotonia and petit mal seizures is presented. Laboratory investigations showed alpha-aminoadipic aciduria and a high level of fetal haemoglobin. Oral L-lysine loading resulted in a marked increase of

[Glutaric aciduria. 1 new case].

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Ingia / Ingia

A 4 year old girl with mild mental retardation presented with convulsions, coma and hepatomegaly. She died rapidly. The main biochemical findings were hypoglycaemia, metabolic acidosis, generalised aminoaciduria, elevation of the plasma and urine alpha-amino adipic acid, massive urine excretion of

Isolated adipic aciduria.

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Ingia / Ingia

Adipic acid can appear, in combination with other dicarboxylic acids, in the urine of patients in a number of underlying metabolic diseases. A child with seizures and mental retardation of unknown etiology who was found to have elevated isolated adipic aciduria on investigation for metabolic

Abnormal metabolism of valproic acid in fatal hepatic failure.

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Ingia / Ingia

A 7-year-old boy developed a severe unilateral grand mal seizure at the age of 5 years (phenobarbitone therapy); 1.5 years later valproate (2-propylpentanoic acid, VPA) was added to the therapy. After a seizure-free period of 3 months the patient died from hepatic failure resembling Reye syndrome.

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