Liver transplantation in two cases of propionic acidaemia

J. S. Schlenzig, F. Poggi-Travert, J. Laurent, D. Rabier, Dominique M. Jan, U. Wendel, A. C. Sewell, Y. Revillon, P. Kamoun, J. M. Saudubray

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

Orthotopic liver transplantation (OLT) was performed in two patients with propionic acidaemia, a 7-year-old boy and a 9-year-old girl, diagnosed with a severe neonatal form with high risk of metabolic decompensation. In both cases the metabolic liver functions recovered within the 12 postoperative hours; no clinical symptoms of propionic acid toxicity, metabolic acidosis, severe hyperammonaemia, hyperglycinaemia or haematological abnormalities were observed. In both cases insulin-dependent diabetes mellitus occurred early after OLT (persisting in the boy's case). Severe post-transplantation complications were observed (acute rejection and CMV infection in both patients) which did not trigger metabolic decompensation. The boy developed chronic rejection and vanishing bile duct syndrome due to incomplete hepatic arterial thrombosis. He required permanent in-patient care with chronic hyperammonaemia and neurological sequelae involving the basal ganglia and died 15 months after OLT. The girl left hospital after 2 months and is presently leading a normal life with almost no dietary protein restriction (40g protein per day). Urinary urea excretion and daily protein intake increased after liver transplantation. Propionyl- and tiglylglycine disappeared immediately after OLT. Urinary methylcitrate and 3-hydroxypropionate remained at concentrations corresponding to those before OLT. However, the total of all characteristic metabolites of organic acid analysis was reduced to 50-60% of the values before OLT in both patients. Propionylcarnitine was still detected at significant concentrations. Plasma odd-chain fatty acid concentrations decreased continuously after OLT only in the girl's case. Tissue of both transplanted livers showed increased odd-chain fatty acid concentrations 9 and 15 months after OLT, respectively, in both patients. We consider that at present OLT should only be performed in severe forms of propionic acidaemia.

Original languageEnglish (US)
Pages (from-to)448-461
Number of pages14
JournalJournal of Inherited Metabolic Disease
Volume18
Issue number4
DOIs
StatePublished - Jul 1995
Externally publishedYes

Fingerprint

Propionic Acidemia
Liver Transplantation
Hyperammonemia
propionylcarnitine
Liver
Fatty Acids
Dietary Proteins
Acidosis
Bile Ducts
Basal Ganglia
Type 1 Diabetes Mellitus
Urea
Patient Care
Proteins
Thrombosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Schlenzig, J. S., Poggi-Travert, F., Laurent, J., Rabier, D., Jan, D. M., Wendel, U., ... Saudubray, J. M. (1995). Liver transplantation in two cases of propionic acidaemia. Journal of Inherited Metabolic Disease, 18(4), 448-461. https://doi.org/10.1007/BF00710056

Liver transplantation in two cases of propionic acidaemia. / Schlenzig, J. S.; Poggi-Travert, F.; Laurent, J.; Rabier, D.; Jan, Dominique M.; Wendel, U.; Sewell, A. C.; Revillon, Y.; Kamoun, P.; Saudubray, J. M.

In: Journal of Inherited Metabolic Disease, Vol. 18, No. 4, 07.1995, p. 448-461.

Research output: Contribution to journalArticle

Schlenzig, JS, Poggi-Travert, F, Laurent, J, Rabier, D, Jan, DM, Wendel, U, Sewell, AC, Revillon, Y, Kamoun, P & Saudubray, JM 1995, 'Liver transplantation in two cases of propionic acidaemia', Journal of Inherited Metabolic Disease, vol. 18, no. 4, pp. 448-461. https://doi.org/10.1007/BF00710056
Schlenzig JS, Poggi-Travert F, Laurent J, Rabier D, Jan DM, Wendel U et al. Liver transplantation in two cases of propionic acidaemia. Journal of Inherited Metabolic Disease. 1995 Jul;18(4):448-461. https://doi.org/10.1007/BF00710056
Schlenzig, J. S. ; Poggi-Travert, F. ; Laurent, J. ; Rabier, D. ; Jan, Dominique M. ; Wendel, U. ; Sewell, A. C. ; Revillon, Y. ; Kamoun, P. ; Saudubray, J. M. / Liver transplantation in two cases of propionic acidaemia. In: Journal of Inherited Metabolic Disease. 1995 ; Vol. 18, No. 4. pp. 448-461.
@article{824ded3ce38d46e0970a5e6ddebd128c,
title = "Liver transplantation in two cases of propionic acidaemia",
abstract = "Orthotopic liver transplantation (OLT) was performed in two patients with propionic acidaemia, a 7-year-old boy and a 9-year-old girl, diagnosed with a severe neonatal form with high risk of metabolic decompensation. In both cases the metabolic liver functions recovered within the 12 postoperative hours; no clinical symptoms of propionic acid toxicity, metabolic acidosis, severe hyperammonaemia, hyperglycinaemia or haematological abnormalities were observed. In both cases insulin-dependent diabetes mellitus occurred early after OLT (persisting in the boy's case). Severe post-transplantation complications were observed (acute rejection and CMV infection in both patients) which did not trigger metabolic decompensation. The boy developed chronic rejection and vanishing bile duct syndrome due to incomplete hepatic arterial thrombosis. He required permanent in-patient care with chronic hyperammonaemia and neurological sequelae involving the basal ganglia and died 15 months after OLT. The girl left hospital after 2 months and is presently leading a normal life with almost no dietary protein restriction (40g protein per day). Urinary urea excretion and daily protein intake increased after liver transplantation. Propionyl- and tiglylglycine disappeared immediately after OLT. Urinary methylcitrate and 3-hydroxypropionate remained at concentrations corresponding to those before OLT. However, the total of all characteristic metabolites of organic acid analysis was reduced to 50-60{\%} of the values before OLT in both patients. Propionylcarnitine was still detected at significant concentrations. Plasma odd-chain fatty acid concentrations decreased continuously after OLT only in the girl's case. Tissue of both transplanted livers showed increased odd-chain fatty acid concentrations 9 and 15 months after OLT, respectively, in both patients. We consider that at present OLT should only be performed in severe forms of propionic acidaemia.",
author = "Schlenzig, {J. S.} and F. Poggi-Travert and J. Laurent and D. Rabier and Jan, {Dominique M.} and U. Wendel and Sewell, {A. C.} and Y. Revillon and P. Kamoun and Saudubray, {J. M.}",
year = "1995",
month = "7",
doi = "10.1007/BF00710056",
language = "English (US)",
volume = "18",
pages = "448--461",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "4",

}

TY - JOUR

T1 - Liver transplantation in two cases of propionic acidaemia

AU - Schlenzig, J. S.

AU - Poggi-Travert, F.

AU - Laurent, J.

AU - Rabier, D.

AU - Jan, Dominique M.

AU - Wendel, U.

AU - Sewell, A. C.

AU - Revillon, Y.

AU - Kamoun, P.

AU - Saudubray, J. M.

PY - 1995/7

Y1 - 1995/7

N2 - Orthotopic liver transplantation (OLT) was performed in two patients with propionic acidaemia, a 7-year-old boy and a 9-year-old girl, diagnosed with a severe neonatal form with high risk of metabolic decompensation. In both cases the metabolic liver functions recovered within the 12 postoperative hours; no clinical symptoms of propionic acid toxicity, metabolic acidosis, severe hyperammonaemia, hyperglycinaemia or haematological abnormalities were observed. In both cases insulin-dependent diabetes mellitus occurred early after OLT (persisting in the boy's case). Severe post-transplantation complications were observed (acute rejection and CMV infection in both patients) which did not trigger metabolic decompensation. The boy developed chronic rejection and vanishing bile duct syndrome due to incomplete hepatic arterial thrombosis. He required permanent in-patient care with chronic hyperammonaemia and neurological sequelae involving the basal ganglia and died 15 months after OLT. The girl left hospital after 2 months and is presently leading a normal life with almost no dietary protein restriction (40g protein per day). Urinary urea excretion and daily protein intake increased after liver transplantation. Propionyl- and tiglylglycine disappeared immediately after OLT. Urinary methylcitrate and 3-hydroxypropionate remained at concentrations corresponding to those before OLT. However, the total of all characteristic metabolites of organic acid analysis was reduced to 50-60% of the values before OLT in both patients. Propionylcarnitine was still detected at significant concentrations. Plasma odd-chain fatty acid concentrations decreased continuously after OLT only in the girl's case. Tissue of both transplanted livers showed increased odd-chain fatty acid concentrations 9 and 15 months after OLT, respectively, in both patients. We consider that at present OLT should only be performed in severe forms of propionic acidaemia.

AB - Orthotopic liver transplantation (OLT) was performed in two patients with propionic acidaemia, a 7-year-old boy and a 9-year-old girl, diagnosed with a severe neonatal form with high risk of metabolic decompensation. In both cases the metabolic liver functions recovered within the 12 postoperative hours; no clinical symptoms of propionic acid toxicity, metabolic acidosis, severe hyperammonaemia, hyperglycinaemia or haematological abnormalities were observed. In both cases insulin-dependent diabetes mellitus occurred early after OLT (persisting in the boy's case). Severe post-transplantation complications were observed (acute rejection and CMV infection in both patients) which did not trigger metabolic decompensation. The boy developed chronic rejection and vanishing bile duct syndrome due to incomplete hepatic arterial thrombosis. He required permanent in-patient care with chronic hyperammonaemia and neurological sequelae involving the basal ganglia and died 15 months after OLT. The girl left hospital after 2 months and is presently leading a normal life with almost no dietary protein restriction (40g protein per day). Urinary urea excretion and daily protein intake increased after liver transplantation. Propionyl- and tiglylglycine disappeared immediately after OLT. Urinary methylcitrate and 3-hydroxypropionate remained at concentrations corresponding to those before OLT. However, the total of all characteristic metabolites of organic acid analysis was reduced to 50-60% of the values before OLT in both patients. Propionylcarnitine was still detected at significant concentrations. Plasma odd-chain fatty acid concentrations decreased continuously after OLT only in the girl's case. Tissue of both transplanted livers showed increased odd-chain fatty acid concentrations 9 and 15 months after OLT, respectively, in both patients. We consider that at present OLT should only be performed in severe forms of propionic acidaemia.

UR - http://www.scopus.com/inward/record.url?scp=0029093079&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029093079&partnerID=8YFLogxK

U2 - 10.1007/BF00710056

DO - 10.1007/BF00710056

M3 - Article

C2 - 7494403

AN - SCOPUS:0029093079

VL - 18

SP - 448

EP - 461

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - 4

ER -