Propionyl-CoA Carboxylase Deficiency with Overflow of Metabolites of Isoleucine Catabolism at All Levels

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 1979 Jan 18

PMID 759179

Citations 7

Authors

H Przyrembel

H J Bremer

M Duran

L Bruinvis

D Ketting

S K WADMAN

R Baumgartner

U IRLE

C Bachmann

Affiliations

Soon will be listed here.

Abstract

An 11-year old girl with spastic paraplegia and mental retardation has suffered from attacks of metabolic acidosis since the age of 18 months. "Ketotic hyperglycinemia" was diagnosed when she was 3 years old. Reinvestigation at 9 1/2 years included a two-day load with L-isoleucine, and propionyl-CoA carboxylase assay in cultured fibroblasts. The following compounds increased following the load: 3-hydroxypropionic acid, 2-methyl-3-hydroxybutyric acid, 2-ethylhydracrylic acid, 3-hydroxy-n-valeric acid, 3-oxo-n-valeric acid, 2-methyl-3-oxobutyric acid, 2-oxo-3-methylvaleric acid, 2-methyl-3-oxovaleric acid, N-tiglylglycine, methylcitric acid and butanone. Small amounts of alloisoleucine appeared in plasma. Propionyl-CoA carboxylase deficiency was suggested by this metabolite pattern and demonstrated in cultured fibroblasts.

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References

Ando T, Rasmussen K, Wright J, Nyhan W . Isolation and identification of methylcitrate, a major metabolic product of propionate in patients with propionic acidemia. J Biol Chem. 1972; 247(7):2200-4. View

van den Berg H, Boelkens M, Hommes F . A case of methylmalonic and propionic acidemia due to methulmalonyl-CoA carbonylmutase apoenzyme deficiency. Acta Paediatr Scand. 1976; 65(1):113-8. DOI: 10.1111/j.1651-2227.1976.tb04417.x. View

Tanaka K, Armitage I, Ramsdell H, HSIA Y, Lipsky S, ROSENBERG L . [13C]Valine metabolism in methylmalonicacidemia using nuclear magnetic resonance: propinonate as an obligate intermediate. Proc Natl Acad Sci U S A. 1975; 72(9):3692-6. PMC: 433063. DOI: 10.1073/pnas.72.9.3692. View

Oberholzer V, Levin B, Burgess E, Young W . Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. Arch Dis Child. 1967; 42(225):492-504. PMC: 2019805. DOI: 10.1136/adc.42.225.492. View

Bartlett K, GOMPERTZ D . Combined carboxylase defect: biotin-responsiveness in cultured fibroblasts. Lancet. 1976; 2(7989):804. DOI: 10.1016/s0140-6736(76)90640-1. View

Duran M, GOMPERTZ D, Bruinvis L, Ketting D, WADMAN S . The variability of metabolite excretion in propionicacidaemia. Clin Chim Acta. 1978; 82(1-2):93-9. DOI: 10.1016/0009-8981(78)90030-x. View

Hommes F, Kuipers J, ELEMA J, Jansen J, Jonxis J . Propionicacidemia, a new inborn error of metabolism. Pediatr Res. 1968; 2(6):519-24. DOI: 10.1203/00006450-196811000-00010. View

Daum R, Lamm P, Mamer O, Scriver C . A "new" disorder of isoleucine catabolism. Lancet. 1971; 2(7737):1289-90. DOI: 10.1016/s0140-6736(71)90605-2. View

Bachmann C, Baumgartner R, Wick H, COLOMBO J . Quantitative gaschromatographic determination of short chain aldehydes and ketones in the urine of infants. Clin Chim Acta. 1976; 66(3):287-93. DOI: 10.1016/0009-8981(76)90227-8. View

10.

Nyhan W, Ando T, Rasmussen K, Wadlington W, Kilroy A, Cottom D . Tiglicaciduria in propionicacidaemia. Biochem J. 1972; 126(4):1035-7. PMC: 1178511. DOI: 10.1042/bj1261035. View

11.

Landaas S . Accumulation of 3-hydroxyisobutyric acid, 2-methyl-3-hydroxybutyric acid and 3-hydroxyisovaleric acid in ketoacidosis. Clin Chim Acta. 1975; 64(2):143-54. DOI: 10.1016/0009-8981(75)90196-5. View

12.

Stern J, Friedman D, Menon G . Enzymic carboxylation of butyryl coenzyme A. Biochim Biophys Acta. 1959; 36:299-300. DOI: 10.1016/0006-3002(59)90116-7. View

13.

BRANDT I, HSIA Y, CLEMENT D, Provence S . Propionicacidemia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development. Pediatrics. 1974; 53(3):391-5. View

14.

Baumgartner E, Bachmann C, BRECHBUHLER T, Wick H . Acute neonatal nonketotic hyperglycinemia: normal propionate and methylmalonate metabolism. Pediatr Res. 1975; 9(7):559-64. DOI: 10.1203/00006450-197507000-00001. View

15.

Stokke O, Jellum E, Eldjarn L, Schnitler R . The occurrence of beta-hydroxy-n-valeric acid in a patient with propionic and methylmalonic acidemia. Clin Chim Acta. 1973; 45(4):391-401. DOI: 10.1016/0009-8981(73)90040-5. View

16.

Mamer O, Tjoa S . 2-Ethylhydracrylic acid: a newly described urinary organic acid. Clin Chim Acta. 1974; 55(2):199-204. DOI: 10.1016/0009-8981(74)90295-2. View

17.

Rasmussen K, Ando T, Nyhan W, Hull D, Cottom D, Kilroy A . Excretion of tiglylglycine in propionic acidemia. J Pediatr. 1972; 81(5):970-2. DOI: 10.1016/s0022-3476(72)80551-1. View

18.

Ando T, Rasmussen K, Nyhan W, Donnell G, Barnes N . Propionic acidemia in patients with ketotic hyperglycinemia. J Pediatr. 1971; 78(5):827-32. DOI: 10.1016/s0022-3476(71)80354-2. View

19.

GOMPERTZ D, Draffan G, Watts J, Hull D . Biotin-responsive beta-methylcrotonylglycinuria. Lancet. 1971; 2(7714):22-4. DOI: 10.1016/s0140-6736(71)90009-2. View

20.

MENKES J . Idiopathic hyperglycinemia: isolation and identification of three previously undescribed urinary ketones. J Pediatr. 1966; 69(3):413-21. DOI: 10.1016/s0022-3476(66)80086-0. View