A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.

@article{Blass1970ADI,
  title={A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.},
  author={J. Blass and J. Avigan and B. Uhlendorf},
  journal={The Journal of clinical investigation},
  year={1970},
  volume={49 3},
  pages={
          423-32
        }
}
A patient with an intermittent movement disorder has been found to have an inherited defect in pyruvate decarboxylase ((2-oxo-acid carboxy-lyase, E.C. 4.1.1.1.). The patient is a 9 yr old boy who since infancy has had repeated episodes of a combined cerebellar and choreoathetoid movement disorder. He has an elevated level of pyruvic acid in his blood, an elevated urinary alanine content, and less marked elevations in blood alanine and lactate. Methods were developed to study his metabolic… Expand
Clinical studies of a patient with pyruvate decarboxylase deficiency.
TLDR
This disorder, in which a constant metabolic defect predisposes to intermittent symptoms, may provide a model for understanding the relations between genetic and environmental factors in other diseases. Expand
Sensitivity to Carbohydrate in a Patient with Familial Intermittent Lactic Acidosis and Pyruvate Dehydrogenase Deficiency
TLDR
The data are consistent with an inherited defect in the seconed enzyme of the pyruvate dehydrogenase complex, lipoate acetyl-transferase, that appears to be inherited in an autosomal recessive manner. Expand
Enzymologic Studies and Therapy of Leigh's Disease Associated with Pyruvate Decarboxylase Deficiency
TLDR
The absence of pyruvate decarboxylase in the cerebellum, cerebrum, kidney, liver, muscle and platelets of the patient supports the hypothesis that there is only one form of pyrivatedecarboxyase in humans. Expand
Fatal Lactic Acidosis in a Newborn Attributable to a Congenital Defect of Pyruvate Dehydrogenase
TLDR
An infant suffering from metabolic acidosis attributable to hyperlactatemia accompanied by hyperalaninemia and hyperserinemia coupled with a severe deficiency of the pyruvate dehydrogenase complex is described. Expand
Pyruvate decarboxylase deficiency in a patient with Leigh's encephalomyelopathy.
TLDR
The present study confirmed that pyruvate decarboxylase deficiency is one of the causes of Leigh's disease. Expand
An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis.
Cultured skin fibroblasts from a 3 yr old girl with severe, diffuse neurologic disease and persistant lactic acidosis, oxidized radioactive citrate, palmitate, and pyruvate at less than one-third theExpand
Lactic acidaemia
TLDR
In addition to the lactic acidosis associated with pyruvate decarboxylase deficiency, ten of the cases showed evidence of facial dysmorphism consisting of a narrow head, wide nasal bridge and flared nostrils or gross microcephaly. Expand
Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency
TLDR
The enzyme defect present in dihydrolipoyl dehydration is responsible for the reduced activity of all three α-keto-acid dehydrogenase complexes and the patient's symptoms, and results provide further evidence that the E3 component of these complexes is genetically and biochemically the same protein. Expand
A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling
A severely mentally retarded infant with congenital lactic acidosis due to pyruvate carboxylase deficiency is reported. The patient suffered from vomiting and convulsions soon after birth andExpand
The Genetic Heterogeneity of Lactic Acidosis: Occurrence of Recognizable Inborn Errors of Metabolism in a Pediatric Population with Lactic Acidosis
TLDR
It is speculated that the continuing use of the comprehensive diagnostic approach to pediatric cases of lactic acidosis as set out in this manuscript will eventually reveal the incidence, character, and clinical manifestations peculiar to the various enzyme deficiencies which collectively contribute to this syndrome. Expand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 60 REFERENCES
Sulfite oxidase deficiency: Studies of a patient with mental retardation, dislocated ocular lenses, and abnormal urinary excretion of S-sulfo-l-cysteine, sulfite, and thiosulfate
Abstract This paper constitutes the first description of a previously unreported disorder of metabolism of sulfur-containing compounds. The patient was born with neurological abnormalities andExpand
Encephalopathy of thiamine deficieny: studies of intracerebral mechanisms.
TLDR
The data suggest, however, that the depression of transketolase is not functionally important per se, but may only be an index of some other critical aspect of the hexose monophosphate shunt. Expand
Refsum's disease: characterization of the enzyme defect in cell culture.
TLDR
Elevated levels of free phytanate in the medium were no more toxic to HAP cells than to control cells over the 48- to 72-hr exposures involved in these studies, as evidenced by morphologic criteria and by ability to oxidize labeled palmitate. Expand
Hyperalaninemia with pyruvicemia (preliminary report).
TLDR
The patient showed mental retardation and motor dysfunction of severe degree on admission at the age of 9 years, and showed a significant rise of blood pyruvate and lactate after glucose loading as compared with controls. Expand
Abnormal resting blood lactate: II. Lactic acidosis
TLDR
Although none of the patients was without disease before the onset of lactic acidosis, and some were recovering from serious diseases, they apparently had no features of past history in common and, therefore, none with which the subsequent hyperlactatemia could be said to be associated. Expand
Lactic acidosis with necrotizing encephalopathy in two sibs.
TLDR
This paper describes two brothers who presented with identical clinical features of hyperpnoea, progressive ataxia, mental deterioration, loss of weight, and a poor prognosis with a syndrome of lactic acidosis. Expand
Carbohydrate metabolism in brain disease. VIII. Carbohydrate metabolism in Wernicke's encephalopathy associated with alcoholism.
TLDR
Wernicke's encephalopathy is a consistent and readily recognized clinical syndrome, the central feature of which is an acute ocular disturbance which takes the form of horizontal and vertical nystagmus and various degrees of paralysis of conjugate gaze and of the external recti muscles. Expand
Argininosuccinic Aciduria. A New Form of Mental Deficiency Due to Metabolic Causes
  • C. Dent
  • Medicine
  • Proceedings of the Royal Society of Medicine
  • 1959
TLDR
The unknown metabolite was present in larger quantity in the cerebrospinal fluid than in the plasma, and had a high renal clearance, and it was speculated that it was probably formed in the brain owing to some inborn error of metabolism. Expand
Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations.
TLDR
A familial disorder is described which is characterized by the initial development in early adult life of periodic attacks of vertigo, diplopia, and ataxia, which recur over a period of many years, preceding the onset of cerebellar dysfunction. Expand
Abnormal resting blood lactate. I. The significance of hyperlactatemia in hospitalized patients.
  • W. Huckabee
  • Medicine
  • The American journal of medicine
  • 1961
TLDR
All patients with hyperlactatemia except the small group 2B were found to exhibit the various known causes of lactate accumulation consistent with the accompanying changes in blood pyruvate but often only indirectly and incidentally related to the "disease" for which hospital admission was required. Expand
...
1
2
3
4
5
...