Identification of Methyl-branched Chain Dicarboxylic Acids in Amniotic Fluid and Urine in Propionic and Methylmalonic Acidemia

Peroxisomes are involved in the β-oxidation chain shortening of long-chain and very-long-chain fatty acyl-CoAs, long-chain dicarboxylyl-CoAs, the CoA esters of eicosanoids, 2-methyl-branched fatty acyl-CoAs, and the CoA esters of the bile acid intermediates, and in the process, they generate H2O2. There are two complete sets of β-oxidation enzymes present in peroxisomes, with each set consisting of three distinct enzymes. The classic PPARα-regulated and inducible set participates in the β-oxidation of straight-chain fatty acids, whereas the second noninducible set acts on branched-chain fatty acids. Long-chain and very-long-chain fatty acids are also metabolized by the cytochrome P-450 CYP4A ω-oxidation system to dicarboxylic acids that serve as substrates for peroxisomal β-oxidation. Evidence derived from mouse models of PPARα and peroxisomal β-oxidation deficiency highlights the critical importance of the defects in PPARα-inducible β-oxidation in energy metabolism and in the development of steatohepatitis.

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Anaesthetic considerations in a child with methylmalonic acidemia and its literature review

BMJ Case Reports ◽

10.1136/bcr-2020-237270 ◽

2020 ◽

Vol 13 (12) ◽

pp. e237270

Author(s):

Anju Gupta ◽

Yamini Dudeja ◽

Rashmi Ramachandran ◽

Rajeshwari Subramaniam

Keyword(s):

Abdominal Surgery ◽

Surgical Stress ◽

Anaesthetic Management ◽

Methylmalonic Acidemia ◽

Relative Paucity ◽

Branched Chain Amino Acid ◽

Metabolic Crisis ◽

Branched Chain ◽

Upper Abdominal

Methyl malonyl coenzyme A mutase deficiency is a rare autosomal inherited inborn error in branched-chain amino acid metabolism characterised by the accumulation of methylmalonic acids. There is relative paucity of literature regarding anaesthetic management of these children presenting for incidental major abdominal surgery. Preoperative management includes goal-directed correction of dehydration, metabolic acidosis and hyperammonemia. Anaesthetic goals include avoidance of factors that can trigger metabolic crisis like hypercapnia, hypothermia, hypoxia, surgical stress, hypovolaemia, hypotension and so on. Herein, we are reporting the anaesthetic management of a 17-month-old child with methylmalonic acidemia (MMA) posted for a major upper abdominal surgery for excision of an adrenal mass, which was incidentally diagnosed during admission for an episode of metabolic crisis. We aim to highlight the specific nuances of pathophysiology of the disease, preoperative optimisation, anaesthetic considerations, role of advanced monitoring and regional anaesthesia and current literature on the management of patients with MMA.

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Reversed-phase ion-pair chromatography of straight- and branched-chain dicarboxylic acids in urine as their 2-nitrophenylhydrazides

Analytical Biochemistry ◽

10.1016/0003-2697(88)90635-5 ◽

1988 ◽

Vol 170 (2) ◽

pp. 301-307 ◽

Cited By ~ 11

Author(s):

Hiroshi Miwa ◽

Magobei Yamamoto

Keyword(s):

Dicarboxylic Acids ◽

Reversed Phase ◽

Ion Pair ◽

Ion Pair Chromatography ◽

Branched Chain

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An E.S.R. study of the oxidation of some malonic and other acids by hydroxyl radicals

Australian Journal of Chemistry ◽

10.1071/ch9810335 ◽

1981 ◽

Vol 34 (2) ◽

pp. 335 ◽

Cited By ~ 23

Author(s):

FR Hewgill ◽

GM Proudfoot

Keyword(s):

Hydroxyl Radicals ◽

Ethylenediaminetetraacetic Acid ◽

Flow System ◽

Dicarboxylic Acids ◽

Aliphatic Acids ◽

Ph Values ◽

Branched Chain

A series of terminal dicarboxylic acids, malonic acids and branched-chain aliphatic acids on oxidation with TiC13/H2O2 in a flow system give rise to e.s.r. spectra arising from mixtures of radicals. In most cases the dominant radical is that formed by abstraction of hydrogen from the β-carbon. Malonic acids complex with titanium(III) ions sufficiently strongly to be examined at elevated pH values without the need for added ethylenediaminetetraacetic acid.

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