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Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.

Abstract：

:A six-day-old girl was referred for severe hepatic failure, dehydratation, axial hypotonia, and both lactic acidosis and ketoacidosis. Biotin-unresponsive pyruvate carboxylase deficiency type B was diagnosed. Triheptanoin, an odd-carbon triglyceride, was administrated as a source for acetyl-CoA and anaplerotic propionyl-CoA. Although this patient succumbed to a severe infection, during the six months interval of her anaplerotic and biochemical management, the following important observations were documented: (1) the immediate reversal (less than 48 h) of major hepatic failure with full correction of all biochemical abnormalities, (2) on citrate supplementation, the enhanced export from the liver of triheptanoin's metabolites, namely 5 carbon ketone bodies, increasing the availability of these anaplerotic substrates for peripheral organs, (3) the demonstration of the transport of C5 ketone bodies-representing alternative energetic fuel for the brain-across the blood-brain barrier, associated to increased levels of glutamine and free gamma-aminobutyric acid (f-GABA) in the cerebrospinal fluid. Considering that pyruvate carboxylase is a key enzyme for anaplerosis, besides the new perspectives brought by anaplerotic therapies in those rare pyruvate carboxylase deficiencies, this therapeutic trial also emphasizes the possible extended indications of triheptanoin in various diseases where the citric acid cycle is impaired.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Mochel F,DeLonlay P,Touati G,Brunengraber H,Kinman RP,Rabier D,Roe CR,Saudubray JM

doi

10.1016/j.ymgme.2004.09.007

subject

Has Abstract

pub_date

2005-04-01 00:00:00

pages

305-12

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(04)00246-X

journal_volume

84

pub_type

杂志文章

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