Two Sisters with Isovaleric Acidaemia, Multiple Attacks of Ketoacidosis and Normal Development

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 1979 Jun 28

PMID 477679

Citations 8

Authors

M Duran

F J VAN SPRANG

J G Drewes

L Bruinvis

D Ketting

S K WADMAN

Affiliations

Soon will be listed here.

Abstract

Two sisters with isovaleric acidaemia are described. Both had multiple attacks of acetonaemic vomiting, sometimes leading to subcoma. Despite this they showed a completely normal mental development. Biochemical studies, clinical follow-up and attempts at treatment are presented.

Citing Articles

Dietary practices in isovaleric acidemia: A European survey.

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Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

Couce M, Aldamiz-Echevarria L, Bueno M, Barros P, Belanger-Quintana A, Blasco J J Hum Genet. 2016; 62(3):355-360.

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Clinical variability of isovaleric acidemia in a genetically homogeneous population.

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Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.

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Lactulose, disaccharides and colonic flora. Clinical consequences.

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References

Winokur P, Vashistha K, Seshamani R . Isovalericacidemia: a case report. Pediatrics. 1978; 61(6):902-3. View

Saudubray J, Sorin M, Depondt E, Herouin C, Charpentier C, Pousset J . [Isovaleric acidemia. Study and treatment in 3 brothers]. Arch Fr Pediatr. 1976; 33(8):795-808. View

GUIBAUD P, DIVRY P, Dubois Y, Collombel C, Larbre F . [A case of isovaleric acidemia]. Arch Fr Pediatr. 1973; 30(6):633-45. View

Krieger I, Tanaka K . Therapeutic effects of glycine in isovaleric acidemia. Pediatr Res. 1976; 10(1):25-9. DOI: 10.1203/00006450-197601000-00005. View

Tanaka K, Mandell R, Shih V . Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects. J Clin Invest. 1976; 58(1):164-72. PMC: 333167. DOI: 10.1172/JCI108446. View

Levy H, Erickson A, Lott I, Kurtz D . Isovaleric acidemia: results of family study and dietary treatment. Pediatrics. 1973; 52(1):83-94. View

Bieber L, Choi Y . Isolation and identification of aliphatic short-chain acylcarnitines from beef heart: possible role for carnitine in branched-chain amino acid metabolism. Proc Natl Acad Sci U S A. 1977; 74(7):2795-8. PMC: 431294. DOI: 10.1073/pnas.74.7.2795. View

Spirer Z, Zakut V, Legum C, BOGAIR N, Charles R, Gil-Av E . Acute neonatal isovaleric acidemia. A report of two cases. Isr J Med Sci. 1975; 11(10):1005-10. View

Kamerling J, Duran M, Bruinvis L, Ketting D, WADMAN S, de Groot C . (2-Ethoxyethoxy)acetic acid: an unusual compound found in the gas chromatographic analysis of urinary organic acids. Clin Chim Acta. 1977; 77(3):397-405. DOI: 10.1016/0009-8981(77)90246-7. View

10.

Malan C, Neethling A, Shanley B, GOMPERTZ D, Bartlett K, Schraader E . Isovaleric acidaemia in two South African children. S Afr Med J. 1977; 51(26):980-3. View

11.

Tanaka K, Orr J, Isselbacher K . Identification of beta-hydroxyisovaleric acid in the urine of a patient with isovaleric acidemia. Biochim Biophys Acta. 1968; 152(3):638-41. DOI: 10.1016/0005-2760(68)90107-0. View

12.

Pettersen J, Jellum E, Eldjarn L . The occurrence of adipic and suberic acid in urine from ketotic patients. Clin Chim Acta. 1972; 38(1):17-24. DOI: 10.1016/0009-8981(72)90202-1. View

13.

Przyrembel H, Bremer H, Duran M, Bruinvis L, Ketting D, WADMAN S . Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels. Eur J Pediatr. 1979; 130(1):1-14. DOI: 10.1007/BF00441893. View

14.

Tanaka K, Budd M, Efron M, Isselbacher K . Isovaleric acidemia: a new genetic defect of leucine metabolism. Proc Natl Acad Sci U S A. 1966; 56(1):236-42. PMC: 285701. DOI: 10.1073/pnas.56.1.236. View