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[3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome].
Rev Neurol. 1998 Jun; 26(154):911-4.RN

Abstract

INTRODUCTION

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is an inborn error of ketogenesis and Leucine catabolism. HMG-CoA lyase catalyses the final step in leucine degradation, converting HMG-CoA to acetyl-CoA and acetoacetic acid. Clinical manifestations include hepatomegaly, lethargy or coma and apnoea. Biochemically there is a characteristic absence of ketosis with hypoglycemia, acidosis, hipertransaminasemia and variable hyperammoniemia. The urinary organic acid profile includes elevated concentrations of 3-hydroxy-3-isovaleric, 3-hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids.

CLINICAL CASE

Here, we report the case of a 17-year-old girl who presented in both ten months and five years of age a clinical picture characterized by lethargy leading to apnea and coma, hepatomegaly, hypoglycemia, metabolic acidosis, hyperammoniemia, elevated serum transaminases and absence of ketonuria. Diagnostic of Reye syndrome was suggested by hystopathologic finding of hepatic steatosis and clinical and biochemical data. As of 11 years old, laboratory investigations revealed carnitine deficiency and characteristic aciduria. Confirmatory enzyme diagnosis revealing deficiency of HMG-CoA lyase was made in cultured fibroblasts.

CONCLUSION

Our report constitutes an example of the presentation of HMG-CoA lyase deficiency as recurrent Reye-like syndrome.

Authors+Show Affiliations

Servicio de Neuropediatría, Hospital General de Galicia, Santiago de Compostela.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

spa

PubMed ID

9658458

Citation

Eirís, J, et al. "[3-hydroxy-3-methylglutaric Aciduria and Recurrent Reye-like Syndrome]." Revista De Neurologia, vol. 26, no. 154, 1998, pp. 911-4.
Eirís J, Ribes A, Fernández-Prieto R, et al. [3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome]. Rev Neurol. 1998;26(154):911-4.
Eirís, J., Ribes, A., Fernández-Prieto, R., Rodríguez-García, J., Rodríguez-Segade, S., & Castro-Gago, M. (1998). [3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome]. Revista De Neurologia, 26(154), 911-4.
Eirís J, et al. [3-hydroxy-3-methylglutaric Aciduria and Recurrent Reye-like Syndrome]. Rev Neurol. 1998;26(154):911-4. PubMed PMID: 9658458.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome]. AU - Eirís,J, AU - Ribes,A, AU - Fernández-Prieto,R, AU - Rodríguez-García,J, AU - Rodríguez-Segade,S, AU - Castro-Gago,M, PY - 1998/7/11/pubmed PY - 1998/7/11/medline PY - 1998/7/11/entrez SP - 911 EP - 4 JF - Revista de neurologia JO - Rev Neurol VL - 26 IS - 154 N2 - INTRODUCTION: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is an inborn error of ketogenesis and Leucine catabolism. HMG-CoA lyase catalyses the final step in leucine degradation, converting HMG-CoA to acetyl-CoA and acetoacetic acid. Clinical manifestations include hepatomegaly, lethargy or coma and apnoea. Biochemically there is a characteristic absence of ketosis with hypoglycemia, acidosis, hipertransaminasemia and variable hyperammoniemia. The urinary organic acid profile includes elevated concentrations of 3-hydroxy-3-isovaleric, 3-hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids. CLINICAL CASE: Here, we report the case of a 17-year-old girl who presented in both ten months and five years of age a clinical picture characterized by lethargy leading to apnea and coma, hepatomegaly, hypoglycemia, metabolic acidosis, hyperammoniemia, elevated serum transaminases and absence of ketonuria. Diagnostic of Reye syndrome was suggested by hystopathologic finding of hepatic steatosis and clinical and biochemical data. As of 11 years old, laboratory investigations revealed carnitine deficiency and characteristic aciduria. Confirmatory enzyme diagnosis revealing deficiency of HMG-CoA lyase was made in cultured fibroblasts. CONCLUSION: Our report constitutes an example of the presentation of HMG-CoA lyase deficiency as recurrent Reye-like syndrome. SN - 0210-0010 UR - https://www.unboundmedicine.com/medline/citation/9658458/[3_hydroxy_3_methylglutaric_aciduria_and_recurrent_Reye_like_syndrome]_ L2 - http://babysfirsttest.org/newborn-screening/conditions/3-hydroxy-3-methylglutaric-aciduria DB - PRIME DP - Unbound Medicine ER -