Literature DB >> 7241536

Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia.

D J Harris, R M Thompson, B Wolf, B I Yang.   

Abstract

A 4-month-old girl presented with myoclonic seizures and an electroencephalogram showing hypsarrhythmia. Hyperglycinuria and a cerebrospinal fluid to plasma glycine ratio of 0.2 suggested the diagnosis of non-ketotic hyperglycinaemia. Propionic acid and methyl citric acid were present in the urine, and propionyl coenzyme A carboxylase was deficient in leucocytes and fibroblasts. The ketotic and non-ketotic hyperglycinaemias cannot be differentiated by CSF: plasma glycine ratios.

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Year:  1981        PMID： 7241536      PMCID： PMC1048694          DOI： 10.1136/jmg.18.2.156

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  Letter: Plasma-csf glycine ratio in normal and nonketotic hyperglycinemic subjects.

Authors:  C R Scriver; A White; W Sprague; S P Horwood
Journal:  N Engl J Med       Date:  1975-10-09       Impact factor: 91.245

2.  Letter: Nonketotic hyperglycinemia with increased propionic acid excretion and hyperammonemia.

Authors:  J P Farriaux; P Morel; F A Hommes
Journal:  N Engl J Med       Date:  1976-03-04       Impact factor: 91.245

3.  Biochemical differences between mutant propionyl-CoA carboxylases from two complementation groups.

Authors:  B Wolf; Y E Hsia; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1978-09       Impact factor: 11.025

4.  Propionic acidemia with severe hyperammonemia and defective glycine metabolism.

Authors:  T Shafai; L Sweetman; W Weyler; S I Goodman; P V Fennessey; W L Nyhan
Journal:  J Pediatr       Date:  1978-01       Impact factor: 4.406

5.  Nonketotic hyperglycinemia. Glycine accumulation due to absence of glycerine cleavage in brain.

Authors:  T L Perry; N Urquhart; J MacLean; M E Evans; S Hansen; G F Davidson; D A Applegarth; P J MacLeod; J E Lock
Journal:  N Engl J Med       Date:  1975-06-12       Impact factor: 91.245

6.  Strychnine therapy in nonketotic hyperglycinemia.

Authors:  D Arneson; L T Ch'ien; P Chance; R S Wilroy
Journal:  Pediatrics       Date:  1979-03       Impact factor: 7.124
  6 in total
  3 in total

1.  Normal growth and development with unrestricted protein intake after severe infantile propionic acidaemia.

Authors:  A S Luder; S Yannicelli; C L Green
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

2.  Interpretation of plasma amino acids in the follow-up of patients: the impact of compartmentation.

Authors:  Claude Bachmann
Journal:  J Inherit Metab Dis       Date:  2008-01-31       Impact factor: 4.982

Review 3.  Metabolic etiologies in West syndrome.

Authors:  Seda Salar; Solomon L Moshé; Aristea S Galanopoulou
Journal:  Epilepsia Open       Date:  2018-03-14
  3 in total

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