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December 1992, Vol 146, No. 12 >
Article | December 1992

An Unusual Presentation of Medium-Chain Acyl Coenzyme A Dehydrogenase Deficiency FREE

Deborah Marsden, MBBS, MRCP; Karin Sege-Petersen, MD, PhD; William L. Nyhan, MD, PhD; Wulf Roeschinger, MD; Lawrence Sweetman, PhD
[+] Author Affiliations

Accepted for publication August 4, 1992.

Reprint requests to Department of Pediatrics (0609A), University of California-San Diego, School of Medicine, 9500 Gilman Dr, La Jolla, CA 92093-0609 (Dr Nyhan).


Am J Dis Child. 1992;146(12):1459-1462. doi:10.1001/archpedi.1992.02160240069023.
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• Objective.  —To report an atypical presentation of medium-chain acyl Coenzyme A dehydrogenase deficiency in a 13-year-old girl with hyperammonemic encephalopathy and orotic aciduria meeting the accepted criteria for diagnosis of a female heterozygous for ornithine transcarbamylase deficiency.

Design.  —Case report and definitive biochemical testing.

Setting.  —Children's hospital and university laboratory.

Participant.  —One teenager.

Interventions.  —Diagnosis and treatment with carnitine.

Measurements/Main Results.  —Assay ornithine transcarbamylase deficiency had normal results. The diagnosis was confirmed by DNA analysis, which revealed homozygosity for prevalent mutation (the adenine to guanine transition at position 985).

Conclusions.  —Patients with a clinical diagnosis of Reye's syndrome have, in general, an inborn error of metabolism. Medium-chain acyl Coenzyme A dehydrogenase deficiency and other disorders of fatty acid oxidation may present long after infancy. They may mimic the presentation of defects in the urea cycle.(AJDC. 1992;146:1459-1462)

REFERENCES

1 +
Bennett MJ, Wonthy E, Pollitt RJ.  The incidence and presentation of dicarboxylic aciduria . J Inherit Metab Dis . 1987;;10:241-242.
2 +
Rinaldo P, O'Shea JJ, Coates PM, Hale DE, Stanley CA, Tanaka K.  Medium-chain acyl-CoA dehydrogenase deficiency: diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine . N Engl J Med . 1988;;319:1308-1313.
3 +
Hoffmann G, Aramaki S, Blum-Hoffmann E, Nyhan WL, Sweetman L.  Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis . Clin Chem . 1989;;35:587-595.
4 +
Maughan RJ.  A simple rapid method for the determination of glucose, lactate, pyruvate, alanine, 3-hydroxybutyrate and acetoacetate on a single 20 mL blood sample . Clin Chim Acta . 1981;;122:231-240.
5 +
Pearson DJ, Chase JFA, Tubbs PK.  The assay of (−) carnitine and its o-acyl derivatives . Methods Enzymol . 1969;;14:612-622.
6 +
Beiber LL, Lewin LM.  Measurement of carnitine and o-acylcarnitines . Methods Enzymol . 1981;;72:276-287.
7 +
Minkler PE, Ingals ST, Hoppel CL.  High-performance liquid chromatographic separation of acylcarnitines following derivatization with 4-bromophenacyl trifluoromethane-sulfonate . Anal Biochem . 1990;;185:29-35.
8 +
Tracey BM, Chalmers RA, Rosankiewicz JR, De Sousa C, Stacey TE.  Acylcarnitines in urine in medium-chain acyl-CoA dehydrogenase deficiency measured by quantitative high-pressure liquid chromatography . Biochem Soc Trans . 1986;;14:700-701.
9 +
Bhuiyan AKMJ, Bartlett K.  Reverse-phase high-performance liquid chromatographic analysis of short, medium and long-chain acylcarnitines in urine and plasma . Biochem Soc Transact . 1988;;16:796-797.
10 +
Bohmer T, Bremer J.  Propionylcarnitine: physiological variations in vivo . Biochem Biophys Acta . 1968;;152:559-567.
11 +
Wolff JA, Thuy LP, Haas RH, Carroll JE, Prodanos C, Nyhan WL.  Carnitine reduces fasting ketogenesis in patients with disorders of propionate metabolism . Lancet . 1986;;1:289-291.
12 +
Matsubara Y, Narisawa K, Miyabayashi S, et al.  Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency . Biochem Biophys Res Commun . 1990;;171:498-505.
13 +
Surtees R, Leonard JV.  Acute metabolic encephalopathy: a review of causes, mechanisms and treatment . J Inherit Metab Dis . 1989;;12( (suppl) ):42-54.
14 +
Rowe PC, Valle D, Brusilow SW.  Inborn errors of metabolism in children referred with Reye's syndrome . JAMA . 1988;;260:3167-3170.
15 +
Rowe PC, Newman SL, Brusilow SW.  Natural history of symptomatic partial ornithine transcarbamylase deficiency . N Engl J Med . 1986;;314:541-547.
16 +
Roe CR, Millington DS, Maltby DA, Bohan TP, Kahler SG, Chalmers RA.  Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl CoA dehydrogenase deficiency . Pediatr Res . 1985;;19:459-466.
17 +
Coates PM, Hale DE, Stanley CA, Corkey BE, Cortner JA.  Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies of cultured skin fibroblasts and peripheral mononuclear leukocytes . Pediatr Res . 1985;;19:671-676.
18 +
Matsubara Y, Kraus JP, Yang-Feng TL, Franke U, Rosenberg LE, Tanaka K.  Molecular cloning of cDNA's encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1 . Proc Natl Acad Sci U S A . 1986;;83:6543-6547.
19 +
Yokota I, Coates PM, Hale DE, Rinaldo P, Tanaka K.  Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency . Am J Hum Genet . 1991;;49: 1280-1291.
20 +
Roe CK, Coates PM.  Acyl CoA dehydrogenase deficiencies . In: Scriver CR, Beaudet AL, Sly WS, Vale D, eds. The Metabolic Basis of Inherited Disease . New York, NY: McGraw-Hill International Book Co; 1989;:889-914.

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References

1 +
Bennett MJ, Wonthy E, Pollitt RJ.  The incidence and presentation of dicarboxylic aciduria . J Inherit Metab Dis . 1987;;10:241-242.
2 +
Rinaldo P, O'Shea JJ, Coates PM, Hale DE, Stanley CA, Tanaka K.  Medium-chain acyl-CoA dehydrogenase deficiency: diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine . N Engl J Med . 1988;;319:1308-1313.
3 +
Hoffmann G, Aramaki S, Blum-Hoffmann E, Nyhan WL, Sweetman L.  Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis . Clin Chem . 1989;;35:587-595.
4 +
Maughan RJ.  A simple rapid method for the determination of glucose, lactate, pyruvate, alanine, 3-hydroxybutyrate and acetoacetate on a single 20 mL blood sample . Clin Chim Acta . 1981;;122:231-240.
5 +
Pearson DJ, Chase JFA, Tubbs PK.  The assay of (−) carnitine and its o-acyl derivatives . Methods Enzymol . 1969;;14:612-622.
6 +
Beiber LL, Lewin LM.  Measurement of carnitine and o-acylcarnitines . Methods Enzymol . 1981;;72:276-287.
7 +
Minkler PE, Ingals ST, Hoppel CL.  High-performance liquid chromatographic separation of acylcarnitines following derivatization with 4-bromophenacyl trifluoromethane-sulfonate . Anal Biochem . 1990;;185:29-35.
8 +
Tracey BM, Chalmers RA, Rosankiewicz JR, De Sousa C, Stacey TE.  Acylcarnitines in urine in medium-chain acyl-CoA dehydrogenase deficiency measured by quantitative high-pressure liquid chromatography . Biochem Soc Trans . 1986;;14:700-701.
9 +
Bhuiyan AKMJ, Bartlett K.  Reverse-phase high-performance liquid chromatographic analysis of short, medium and long-chain acylcarnitines in urine and plasma . Biochem Soc Transact . 1988;;16:796-797.
10 +
Bohmer T, Bremer J.  Propionylcarnitine: physiological variations in vivo . Biochem Biophys Acta . 1968;;152:559-567.
11 +
Wolff JA, Thuy LP, Haas RH, Carroll JE, Prodanos C, Nyhan WL.  Carnitine reduces fasting ketogenesis in patients with disorders of propionate metabolism . Lancet . 1986;;1:289-291.
12 +
Matsubara Y, Narisawa K, Miyabayashi S, et al.  Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency . Biochem Biophys Res Commun . 1990;;171:498-505.
13 +
Surtees R, Leonard JV.  Acute metabolic encephalopathy: a review of causes, mechanisms and treatment . J Inherit Metab Dis . 1989;;12( (suppl) ):42-54.
14 +
Rowe PC, Valle D, Brusilow SW.  Inborn errors of metabolism in children referred with Reye's syndrome . JAMA . 1988;;260:3167-3170.
15 +
Rowe PC, Newman SL, Brusilow SW.  Natural history of symptomatic partial ornithine transcarbamylase deficiency . N Engl J Med . 1986;;314:541-547.
16 +
Roe CR, Millington DS, Maltby DA, Bohan TP, Kahler SG, Chalmers RA.  Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl CoA dehydrogenase deficiency . Pediatr Res . 1985;;19:459-466.
17 +
Coates PM, Hale DE, Stanley CA, Corkey BE, Cortner JA.  Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies of cultured skin fibroblasts and peripheral mononuclear leukocytes . Pediatr Res . 1985;;19:671-676.
18 +
Matsubara Y, Kraus JP, Yang-Feng TL, Franke U, Rosenberg LE, Tanaka K.  Molecular cloning of cDNA's encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1 . Proc Natl Acad Sci U S A . 1986;;83:6543-6547.
19 +
Yokota I, Coates PM, Hale DE, Rinaldo P, Tanaka K.  Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency . Am J Hum Genet . 1991;;49: 1280-1291.
20 +
Roe CK, Coates PM.  Acyl CoA dehydrogenase deficiencies . In: Scriver CR, Beaudet AL, Sly WS, Vale D, eds. The Metabolic Basis of Inherited Disease . New York, NY: McGraw-Hill International Book Co; 1989;:889-914.

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