Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia

M. Abacan; A. Boneh

doi:10.1016/j.ymgme.2013.05.018

Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia

M. Abacan, A. Boneh

Research output: Contribution to journal › Article › Research › peer-review

20 Citations (Scopus)

Abstract

Propionic acidaemia (PA) results from propionyl-CoA carboxylase deficiency. During metabolic decompensation, the accumulation of propionyl-CoA causes secondary hyperammonaemia through N-acetylglutamate synthetase inactivation. Carglumic acid, a structural analogue of N-acetylglutamate, was given to patients with PA (n. = 3) during episodes of metabolic decompensation (n. = 8; age range: birth to 4. years), in addition to high energy/low protein intake and carnitine. Plasma ammonia concentrations normalised within 6-19. h. Carglumic acid was well tolerated with no side effects noted.

Original language	English
Pages (from-to)	397-401
Number of pages	5
Journal	Molecular Genetics and Metabolism
Volume	109
Issue number	4
DOIs	https://doi.org/10.1016/j.ymgme.2013.05.018
Publication status	Published - Aug 2013
Externally published	Yes

Keywords

Carglumic acid
Hyperammonaemia
Propionic acidaemia

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.ymgme.2013.05.018

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title = "Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia",

abstract = "Propionic acidaemia (PA) results from propionyl-CoA carboxylase deficiency. During metabolic decompensation, the accumulation of propionyl-CoA causes secondary hyperammonaemia through N-acetylglutamate synthetase inactivation. Carglumic acid, a structural analogue of N-acetylglutamate, was given to patients with PA (n. = 3) during episodes of metabolic decompensation (n. = 8; age range: birth to 4. years), in addition to high energy/low protein intake and carnitine. Plasma ammonia concentrations normalised within 6-19. h. Carglumic acid was well tolerated with no side effects noted.",

keywords = "Carglumic acid, Hyperammonaemia, Propionic acidaemia",

author = "M. Abacan and A. Boneh",

year = "2013",

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doi = "10.1016/j.ymgme.2013.05.018",

language = "English",

volume = "109",

pages = "397--401",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

publisher = "Elsevier",

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TY - JOUR

T1 - Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia

AU - Abacan, M.

AU - Boneh, A.

PY - 2013/8

Y1 - 2013/8

N2 - Propionic acidaemia (PA) results from propionyl-CoA carboxylase deficiency. During metabolic decompensation, the accumulation of propionyl-CoA causes secondary hyperammonaemia through N-acetylglutamate synthetase inactivation. Carglumic acid, a structural analogue of N-acetylglutamate, was given to patients with PA (n. = 3) during episodes of metabolic decompensation (n. = 8; age range: birth to 4. years), in addition to high energy/low protein intake and carnitine. Plasma ammonia concentrations normalised within 6-19. h. Carglumic acid was well tolerated with no side effects noted.

AB - Propionic acidaemia (PA) results from propionyl-CoA carboxylase deficiency. During metabolic decompensation, the accumulation of propionyl-CoA causes secondary hyperammonaemia through N-acetylglutamate synthetase inactivation. Carglumic acid, a structural analogue of N-acetylglutamate, was given to patients with PA (n. = 3) during episodes of metabolic decompensation (n. = 8; age range: birth to 4. years), in addition to high energy/low protein intake and carnitine. Plasma ammonia concentrations normalised within 6-19. h. Carglumic acid was well tolerated with no side effects noted.

KW - Carglumic acid

KW - Hyperammonaemia

KW - Propionic acidaemia

UR - https://www.scopus.com/pages/publications/84880771635

U2 - 10.1016/j.ymgme.2013.05.018

DO - 10.1016/j.ymgme.2013.05.018

M3 - Article

AN - SCOPUS:84880771635

SN - 1096-7192

VL - 109

SP - 397

EP - 401

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 4

ER -

Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia

Abstract

Keywords

UN SDGs

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