2-Hydroxyglutaric aciduria: a case report on an infant with the D-isomeric form with review of the literature.

We report on an infant with D-2-hydroxyglutaric aciduria, who presented with severe seizures and developmental delay. We reviewed the literature for 2-hydroxyglutaric aciduria and found six other patients with the D-isomer and 24 patients with the L-isomer. Although the clinical spectrum of this inborn error of metabolism is variable, the clinical course of the D-form seems to be more severe than this of the L-form.

L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.

We present clinical, biochemical and cranial magnetic resonance imaging data of six pediatric patients with L-2-hydroxyglutaric aciduria. All the children have the same ethic origin and lived in the northern area of Portugal. Our findings reinforce the described phenotype of this rare metabolic disease with mental deficiency, severe cerebellar dysfunction, mild extrapyramidal and pyramidal symptoms, progressive macrocephaly and seizures. Magnetic resonance imaging revealed subcortical leukoencephalopathy, cerebellar atrophy and signal changes in the putamina and dentate nuclei. These were similar to those of the previous reports in all patients. The urinary excretion of L-2-hydroxyglutaric acid was variably increased in all patients. The other persistent biochemical abnormality was hyperlysinemia. We have found a strong correlation between the severity of the clinical manifestations and the extension of the lesions in the neuroimaging studies. There was no correlation between the clinical findings and the amount of urinary excretion of L-2-hydroxyglutaric acid. We report the second case in the literature of a cerebral thalamic tumor in L-2-hydroxyglutaric aciduria; neuropathological examination of the surgical biopsy demonstrated a diffuse fibrillary astrocytoma.

[Investigations on the pathogenesis of distal renal tubular acidosis (author's transl)]. / Untersuchungen zur Pathogenese der distalen renalen tubulären Azidose.

In distal (type 1) RTA, renal acid excretion is impaired by the inability to establish adequate pH gradients between plasma and distal tubular fluid at any level of acidosis. Main clinical signs in infancy are anorexia, vomiting and failure to thrive. Despite low serum bicarbonate levels the renal threshold of bicarbonate is normal, while urinary pH levels are high even with values below the threshold. Under conditions of bicarbonate-induced systemic alkalosis urinary the pCO2 exceeds blood pCO2 in normal subjects. by contrast, the urinary pCO2 tension is not significantly greater in distal RTA, indicating a failure of the cells of the distal nephron to secrete hydrogen ions even without a gradient. Red cell carbonic anhydrase is within the normal range, whilst the inhibition of carbonic anhydrase activity has no effect on distal tubular function. Until now no histological or enzymatic defect could be detected to explain the ineffective acidification. Bicarbonate loading is followed by a lowering of calcium excretion to within the normal range and a decrease in the uncharacteristic renal hyperaminoaciduria.

Peeling skin syndrome with aminoaciduria.

A 12-year-old child presented with asymptomatic, noninflammatory, generalized peeling of the skin since early childhood. He was diagnosed as having type A continual peeling skin syndrome. Associated increased excretion of cystine and histidine in the urine has hitherto not been reported.

Asperger's syndrome and aminoaciduria: a case example.

An 18-year-old male, originally diagnosed as suffering from infantile autism but with a developmental history and clinical picture in keeping with Asperger's syndrome, and showing current signs of impairment of higher cerebral functioning, is presented. The subject and several males of his family present behavioural disturbances of an enduring type. An aminoaciduria was discovered in the subject and his father. A possible relationship between the metabolic disturbance and the neurological and behavioural disturbance is raised. Mechanisms for this relationship are discussed, including sporadic hyperlysinaemia.

Cutaneous manifestations associated with aminoaciduria. Report of two cases.

This is a report of 2 cases revealing photosensitivity in association with aminoaciduria. The first is a patient with psoriasis and the second, a patient with Ehlers-Danlos syndrome, mitis type. The display of the above combinations seems peculiar. The psoriatic lesions become confined mainly to the exposed surface and intermingled with those of photodermatitis forming lesions which are a mixture of the two processes. In the case with Ehlers-Danlos, the disease presented rupioid plaque-like erythematous oozing lesions which seem somewhat different from those of the photodermatosis yet known.

Report of three cases of mucopolysacchaidoses and an unusual case of hyperaminoaciduria detected during the screening of mentally retarded children.

315 mentally retarded children from the coastal districts of Andhra Pradesh, south India, were screened to detect metabolic defects. Results with 2 cases of Hunter's syndrome, 1 case of Sanfilippo's syndrome and an unusual case of hyperamino aciduria are presented.

Hyperdibasicaminoaciduria in a Turkish infant without evident protein intolerance.

The first patient of Turkish descent with hyperdibasicaminoaciduria is described. Recurrent diarrhea was observed only during the first three months of life. The infant exhibited low plasma levels of ornithine and arginine. Intestinal absorption of lysine was decreased. Hyperammonemia was noticed only after an i.v. alanine load. It was prevented by addition of arginine.