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  1. No Access

    Article

    Causes of and diagnostic approach to methylmalonic acidurias

    Several mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are known based on biochemical, enzymatic and genetic complementation analysis. The mut0 and mut− defects result from deficienc...

    B. Fowler, J. V. Leonard, M. R. Baumgartner in Journal of Inherited Metabolic Disease (2008)

  2. No Access

    Article

    Neurological implications of urea cycle disorders

    The urea cycle disorders constitute a group of rare congenital disorders caused by a deficiency of the enzymes or transport proteins required to remove ammonia from the body. Via a series of biochemical steps,...

    A. L. Gropman, M. Summar, J. V. Leonard in Journal of Inherited Metabolic Disease (2007)

  3. No Access

    Article

    Recent advances in amino acid and organic acid metabolism

    This paper focuses on the three areas in this field in which there have been advances in amino acid and organic acid metabolism. These are the description of glutamine synthetase deficiency, the elucidation of...

    J. V. Leonard in Journal of Inherited Metabolic Disease (2007)

  4. No Access

    Article

    Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

    Glutaryl-CoA dehydrogenase (GCDH) deficiency is an autosomal recessive disease with an estimated overall prevalence of 1 in 100 000 newborns. Biochemically, the disease is characterized by accumulation of glut...

    S. Kölker, E. Christensen, J. V. Leonard… in Journal of Inherited Metabolic Disease (2007)

  5. No Access

    Article

    The aetiology of neurological complications of organic acidaemias—A role for the blood–brain barrier

    The blood–brain barrier (BBB) metabolically isolates the central nervous system (CNS) from the circulation and protects it against fluctuations of hydrophilic nutrients in plasma and from intoxication. Recent ...

    S. Kölker, S. W. Sauer, R. A. H. Surtees… in Journal of Inherited Metabolic Disease (2006)

  6. No Access

    Article

    Komrower lecture: Treatment of inborn errors of metabolism: A review

    Although the treatment of a small number of inborn errors is very good, for the majority the outcome is less satisfactory. This review examines current treatment critically and suggests how the information on ...

    J. V. Leonard in Journal of Inherited Metabolic Disease (2006)

  7. No Access

    Article

    Acute metabolic encephalopathy: An introduction

    Acute encephalopathy is a common and potentially serious problem in patients with inborn errors of metabolism. There are many causes and the diagnosis and treatment are both urgent. However, the pathogenesis i...

    J. V. Leonard in Journal of Inherited Metabolic Disease (2005)

  8. No Access

    Article

    L-Carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: A pilot study

    Skeletal muscle function may be impaired in patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, but the value of L-carnitine in their long-term management is not clear. This study was designed...

    P. J. Lee, E. L. Harrison, M. G. Jones, S. Jones… in Journal of Inherited Metabolic Disease (2005)

  9. No Access

    Article

    How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?

    Summary: The allopurinol test aims to distinguish carriers and noncarriers for ornithine transcarbamylase (OTC) deficiency. We have evaluated the reliability of the test in at-risk females of known genotype. Resu...

    S. Grünewald, L. Fairbanks, S. Genet, T. Cranston… in Journal of Inherited Metabolic Disease (2004)

  10. No Access

    Article

    Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency

    Carnitine palmitoyltransferase type II (CPT II) deficiency has three basic phenotypes, late-onset muscular (mild), infantile/juvenile hepatic (intermediate) and severe neonatal. We have measured fatty acid oxi...

    S. E. Olpin, A. Afifi, S. Clark, N. J. Manning… in Journal of Inherited Metabolic Disease (2003)

  11. No Access

    Article

    What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency?

    Cardiomyopathy is common in infants with long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. Resolution of the cardiomyopathy can often be achieved by avoidance of fasting and changing from a conventional ...

    A. M. Lund, M. A. Dixon, P. Vreken, J. V. Leonard… in Journal of Inherited Metabolic Disease (2003)

  12. No Access

    Article

    Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

    Plasma and erythrocyte fatty acids have been measured in 9 patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency being treated with a low-fat diet. No significant abnormality was detected and in ...

    A. M. Lund, M. A. Dixon, P. Vreken, J. V. Leonard… in Journal of Inherited Metabolic Disease (2003)

  13. No Access

    Article

    Diagnostic Value of Succinate Ubiquinone Reductase Activity in the Identification of Patients with Mitochondrial DNA Depletion

    Mitochondrial DNA (mtDNA) depletion syndrome (McKusick 251880) is characterized by a progressive quantitative loss of mtDNA resulting in severe mitochondrial dysfunction. A diagnosis of mtDNA depletion can onl...

    I. P. Hargreaves, S. Rahman, P. Guthrie… in Journal of Inherited Metabolic Disease (2002)

  14. No Access

    Article

    Outcome of tyrosinaemia type III

    Tyrosinaemia type III is a rare disorder caused by a deficiency of 4-hydroxyphenylpyruvate dioxygenase, the second enzyme in the catabolic pathway of tyrosine. The majority of the nine previously reported pati...

    C. J. Ellaway, E. Holme, S. Standing… in Journal of Inherited Metabolic Disease (2001)

  15. No Access

    Article

    Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia

    A retrospective review of the plasma ammonia and glutamine concentrations during the long-term management of 7 patients with ornithine carbamoyltransferase (OCT) deficiency and three with citrullinaemia is pre...

    C. J. Wilson, P. J. Lee, J. V. Leonard in Journal of Inherited Metabolic Disease (2001)

  16. No Access

    Article

    The management of organic acidaemias: The role of transplantation

    This workshop addressed the issue of treatment in propionic acid-aemia (PA) and methylmalonic acidaemia (MMA) and in particular the outcome of conventional management compared with organ transplantation. Altho...

    J. V. Leonard, J. H. Walter, P. J. McKiernan in Journal of Inherited Metabolic Disease (2001)

  17. No Access

    Article

    Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia

    Tyrosinaemia types I and II are caused by enzyme deficiencies in the tyrosine catabolism pathway. Successful treatment is possible with the novel enzyme inhibitor NTBC in tyrosinaemia type I and with dietary t...

    C. J. Wilson, K. G. Van Wyk, J. V. Leonard… in Journal of Inherited Metabolic Disease (2000)

  18. No Access

    Article

    Early onset of complete heart block in Pearson syndrome

    S. Rahman, J. V. Leonard in Journal of Inherited Metabolic Disease (2000)

  19. No Access

    Article

    False positive fructose loading: a pitfall in the diagnosis of fructose-1,6-bisphosphatase deficiency

    A. M. Lund, J. V. Leonard in Journal of Inherited Metabolic Disease (2000)

  20. No Access

    Chapter

    Disorders of the Urea Cycle

    Five inherited disorders of the urea cycle are now well described. These are characterised by hyperammonaemia and disordered amino-acid metabolism. The presentation is highly variable: those presenting in the ...

    J. V. Leonard in Inborn Metabolic Diseases (2000)

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