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December 2, 1988, Vol 260, No. 21 >
ARTICLE | December 2, 1988

Inborn Errors of Metabolism in Children Referred With Reye's Syndrome: Title and subTitle BreakA Changing Pattern FREE

Peter C. Rowe, MD; David Valle, MD; Saul W. Brusilow, MD
[+] Author Affiliations

Reprint requests to Department of Pediatrics, Children's Hospital of Eastern Ontario, 401 Smyth Rd, Ottawa, Ontario, Canada K1H 8L1 (Dr Rowe)


JAMA. 1988;260(21):3167-3170. doi:10.1001/jama.1988.03410210079041
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References

Genetic disorders were identified infrequently among children presenting with Reye's syndrome in the past. During a two-year period, we evaluated four consecutive patients referred for intensive care of Reye's syndrome. A standard investigation for inborn errors of metabolism revealed that two patients had enzymatic defects of fatty acid oxidation, and the other two had partial deficiencies of ornithine transcarbamoylase. None had experienced a previous episode of Reye's syndrome, and three of the four had been entirely healthy in the past. Our experience suggests that as the incidence of Reye's syndrome has decreased, patients with its clinical features are now more likely to have manageable inborn errors of metabolism (eg, disorders of ureagenesis, ketogenesis, and branched-chain amino acids).

(JAMA 1988;260:3167-3170)

REFERENCES

1 +
Reye RDK, Morgan G, Baral J:  Encephalopathy and fatty degeneration of the viscera: A disease entity in childhood . Lancet 1963;;2:749-752.
2 +
Hurwitz ES, Barrett MJ, Bregman D, et al:  Public Health Service study of Reye's syndrome and medications: Report of the main study . JAMA 1987;;257:1905-1911.
3 +
Heubi JE, Partin JC, Partin JS, et al:  Reye's syndrome: Current concepts . Hepatology 1987;;7: 155-164.
4 +
Giles HM:  Encephalopathy and fatty degeneration of the viscera . Lancet 1965;;1:1075.
5 +
Thaler MM:  Metabolic mechanisms in Reye's syndrome: End of a mystery? AJDC 1976;;130:241-243.
6 +
Sullivan-Bolyai JZ, Corey L:  Epidemiology of Reye syndrome . Epidemiol Rev 1981;;3:1-26.
7 +
 Diagnosis and treatment of Reye's syndrome, CONSENSUS CONFERENCE . JAMA 1981;;246:2441-2444.
8 +
Robinson RO:  Differential diagnosis of Reye's syndrome . Dev Med Child Neurol 1987;;29:110-116.
9 +
 Reye's syndrome—United States, 1985 . MMWR 1986;;35:66-68, 73-74.
10 +
Stanley CA, Hale DE, Coates PM, et al:  Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels . Pediatr Res 1983;;17:877-884.
11 +
Rhead WJ, Amendt BA, Fritchman KS, et al:  Dicarboxylic aciduria: Deficient (1-14C)octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts . Science 1983;;221:73-75.
12 +
Divey P, David M, Gregersen N, et al:  Dicarboxylic aciduria due to medium chain acyl CoA-dehydrogenase defect: A cause of hypoglycemia in childhood . Acta Paediatr Scand 1983;;72:943-949.
13 +
Bougneres PF, Rocchiccioli F, Kolvraa S, et al:  Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like sydrome . J Pediatr 1985;;106:918-921.
14 +
Roe CR, Millington DS, Maltby DA, et al:  Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes . J Pediatr 1986;;108:13-18.
15 +
Taubman B, Hale DE, Kelly RI:  Familial Reye-like syndrome: A presentation of medium-chain acyl-Coenzyme A dehydrogenase deficiency . Pediatrics 1987;;79:382-385.
16 +
Faull K, Bolton P, Halpern B, et al:  Patient with defect in leucine metabolism . N Engl J Med 1976;;294:1013.
17 +
Leonard JV, Seakins JWT, Griffin NK:  B-hydroxy-B-methyl-glutaricaciduria presenting as Reye's syndrome . Lancet 1979;;1:680.
18 +
Chapoy PR, Angelini C, Brown WJ, et al:  Systemic carnitine deficiency: A treatable inherited lipid-storage disease presenting as Reye's syndrome . N Engl J Med 1980;;303:1389-1394.
19 +
Roe CR, Millington DS, Maltby DA:  Identification of 3-methylglutarylcarnitine: A new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency . J Clin Invest 1986;;77:1391-1394.
20 +
Brusilow SW, Danney M, Waber LJ, et al:  Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis . N Engl J Med 1984;;310:1630-1634.
21 +
Rowe PC, Newman SL, Brusilow SW:  Natural history of symptomatic partial ornithine transcarbamylase deficiency . N Engl J Med 1986;;314:541-547.
22 +
Levin B, Dobbs RH, Burgess EA, et al:  Hyperammonaemia: A variant type of liver ornithine transcarbamylase . Arch Dis Child 1969;;44:162-169.
23 +
Yokoi T, Honke K, Funabashi T, et al.  Partial ornithine transcarbamylase deficiency simulating Reye syndrome . J Pediatr 1981;;99;929-931.
24 +
Hilty MD, McClung HJ, Haynes RE, et al:  Reye syndrome in siblings . J Pediatr 1979;;94:576-579.
25 +
Sullivan-Bolyai JZ, Marks JS, Johnson D, et al:  Reye syndrome in Ohio, 1973-1977 . Am J Epidemiol 1980;;112:629-638.
26 +
Fitzgerald JF, Clark JH, Angelides AG, et al:  The prognostic significance of peak ammonia levels in Reye syndrome . Pediatrics 1982;;997-1000.
27 +
Coates PM, Hale DE, Stanley CA, et al:  Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: Studies in cultured skin fibroblasts and peripheral mononuclear leukocytes . Pediatr Res 1985;;19:671-676.
28 +
Labrecque DR, Latham PS, Riely CA, et al:  Heritable urea cycle enzyme deficiency-liver disease in 16 patients . J Pediatr 1979;;94:580-587.
29 +
Guertin SR, Levinsohn MW, Dahms BB:  Small droplet steatosis and intracranial hypertension in arginino-succinic lyase deficiency . J Pediatr 1983;; 102:736-740.
30 +
Treem WR, Witzleben CA, Piccoli DA, et al:  Medium-chain and long-chain acyl CoA dehydrogenase deficiency: Clinical pathological and ultra-structural differentiation from Reye's syndrome . Hepatology 1986;;6:1270-1278.
31 +
Starko KM, Mullick FG:  Hepatic and cerebral pathology findings in children with fatal salicylate intoxication: Further evidence for a causal relation between salicylate and Reye's syndrome . Lancet 1983;;1:326-329.
32 +
Sinclair-Smith C, Dinsdale F, Emery J:  Evidence of duration and type of illness in children found unexpectedly dead . Arch Dis Child 1976;;51: 424-429.
33 +
Bonnell HJ, Beckwith JB:  Fatty liver in sudden childhood death . AJDC 1986;;140:30-33.
34 +
Barrett MJ, Hurwitz ES, Schonberger LB, et al:  Changing epidemiology of Reye syndrome in the United States . Pediatrics 1986;;77:598-602.
35 +
ArrowsmithJB, Kennedy DL, KuritskyJN, et al:  National patterns of aspirin use and Reye syndrome reporting, United States, 1980 to 1985 . Pediatrics 1987;;79:858-863.
36 +
 Reye's syndrome and aspirin: Epidemiological associations and inborn errors of metabolism , editorial. Lancet 1987;;2:429-431.
37 +
Roe CR, Millington DS, Conway HT:  Reye's syndrome: Need for mass spectrometry . J Natl Reye's Syndrome Foundation 1986;;6:94-101.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

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1 +
Reye RDK, Morgan G, Baral J:  Encephalopathy and fatty degeneration of the viscera: A disease entity in childhood . Lancet 1963;;2:749-752.
2 +
Hurwitz ES, Barrett MJ, Bregman D, et al:  Public Health Service study of Reye's syndrome and medications: Report of the main study . JAMA 1987;;257:1905-1911.
3 +
Heubi JE, Partin JC, Partin JS, et al:  Reye's syndrome: Current concepts . Hepatology 1987;;7: 155-164.
4 +
Giles HM:  Encephalopathy and fatty degeneration of the viscera . Lancet 1965;;1:1075.
5 +
Thaler MM:  Metabolic mechanisms in Reye's syndrome: End of a mystery? AJDC 1976;;130:241-243.
6 +
Sullivan-Bolyai JZ, Corey L:  Epidemiology of Reye syndrome . Epidemiol Rev 1981;;3:1-26.
7 +
 Diagnosis and treatment of Reye's syndrome, CONSENSUS CONFERENCE . JAMA 1981;;246:2441-2444.
8 +
Robinson RO:  Differential diagnosis of Reye's syndrome . Dev Med Child Neurol 1987;;29:110-116.
9 +
 Reye's syndrome—United States, 1985 . MMWR 1986;;35:66-68, 73-74.
10 +
Stanley CA, Hale DE, Coates PM, et al:  Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels . Pediatr Res 1983;;17:877-884.
11 +
Rhead WJ, Amendt BA, Fritchman KS, et al:  Dicarboxylic aciduria: Deficient (1-14C)octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts . Science 1983;;221:73-75.
12 +
Divey P, David M, Gregersen N, et al:  Dicarboxylic aciduria due to medium chain acyl CoA-dehydrogenase defect: A cause of hypoglycemia in childhood . Acta Paediatr Scand 1983;;72:943-949.
13 +
Bougneres PF, Rocchiccioli F, Kolvraa S, et al:  Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like sydrome . J Pediatr 1985;;106:918-921.
14 +
Roe CR, Millington DS, Maltby DA, et al:  Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes . J Pediatr 1986;;108:13-18.
15 +
Taubman B, Hale DE, Kelly RI:  Familial Reye-like syndrome: A presentation of medium-chain acyl-Coenzyme A dehydrogenase deficiency . Pediatrics 1987;;79:382-385.
16 +
Faull K, Bolton P, Halpern B, et al:  Patient with defect in leucine metabolism . N Engl J Med 1976;;294:1013.
17 +
Leonard JV, Seakins JWT, Griffin NK:  B-hydroxy-B-methyl-glutaricaciduria presenting as Reye's syndrome . Lancet 1979;;1:680.
18 +
Chapoy PR, Angelini C, Brown WJ, et al:  Systemic carnitine deficiency: A treatable inherited lipid-storage disease presenting as Reye's syndrome . N Engl J Med 1980;;303:1389-1394.
19 +
Roe CR, Millington DS, Maltby DA:  Identification of 3-methylglutarylcarnitine: A new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency . J Clin Invest 1986;;77:1391-1394.
20 +
Brusilow SW, Danney M, Waber LJ, et al:  Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis . N Engl J Med 1984;;310:1630-1634.
21 +
Rowe PC, Newman SL, Brusilow SW:  Natural history of symptomatic partial ornithine transcarbamylase deficiency . N Engl J Med 1986;;314:541-547.
22 +
Levin B, Dobbs RH, Burgess EA, et al:  Hyperammonaemia: A variant type of liver ornithine transcarbamylase . Arch Dis Child 1969;;44:162-169.
23 +
Yokoi T, Honke K, Funabashi T, et al.  Partial ornithine transcarbamylase deficiency simulating Reye syndrome . J Pediatr 1981;;99;929-931.
24 +
Hilty MD, McClung HJ, Haynes RE, et al:  Reye syndrome in siblings . J Pediatr 1979;;94:576-579.
25 +
Sullivan-Bolyai JZ, Marks JS, Johnson D, et al:  Reye syndrome in Ohio, 1973-1977 . Am J Epidemiol 1980;;112:629-638.
26 +
Fitzgerald JF, Clark JH, Angelides AG, et al:  The prognostic significance of peak ammonia levels in Reye syndrome . Pediatrics 1982;;997-1000.
27 +
Coates PM, Hale DE, Stanley CA, et al:  Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: Studies in cultured skin fibroblasts and peripheral mononuclear leukocytes . Pediatr Res 1985;;19:671-676.
28 +
Labrecque DR, Latham PS, Riely CA, et al:  Heritable urea cycle enzyme deficiency-liver disease in 16 patients . J Pediatr 1979;;94:580-587.
29 +
Guertin SR, Levinsohn MW, Dahms BB:  Small droplet steatosis and intracranial hypertension in arginino-succinic lyase deficiency . J Pediatr 1983;; 102:736-740.
30 +
Treem WR, Witzleben CA, Piccoli DA, et al:  Medium-chain and long-chain acyl CoA dehydrogenase deficiency: Clinical pathological and ultra-structural differentiation from Reye's syndrome . Hepatology 1986;;6:1270-1278.
31 +
Starko KM, Mullick FG:  Hepatic and cerebral pathology findings in children with fatal salicylate intoxication: Further evidence for a causal relation between salicylate and Reye's syndrome . Lancet 1983;;1:326-329.
32 +
Sinclair-Smith C, Dinsdale F, Emery J:  Evidence of duration and type of illness in children found unexpectedly dead . Arch Dis Child 1976;;51: 424-429.
33 +
Bonnell HJ, Beckwith JB:  Fatty liver in sudden childhood death . AJDC 1986;;140:30-33.
34 +
Barrett MJ, Hurwitz ES, Schonberger LB, et al:  Changing epidemiology of Reye syndrome in the United States . Pediatrics 1986;;77:598-602.
35 +
ArrowsmithJB, Kennedy DL, KuritskyJN, et al:  National patterns of aspirin use and Reye syndrome reporting, United States, 1980 to 1985 . Pediatrics 1987;;79:858-863.
36 +
 Reye's syndrome and aspirin: Epidemiological associations and inborn errors of metabolism , editorial. Lancet 1987;;2:429-431.
37 +
Roe CR, Millington DS, Conway HT:  Reye's syndrome: Need for mass spectrometry . J Natl Reye's Syndrome Foundation 1986;;6:94-101.

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