Phenotypically mild presentation in a patient with 2‐methylacetoacetyl‐coenzyme A (β‐keto)thiolase deficiency

Gibson, K. Michael; Feigenbaum, Annette

doi:10.1023/a:1005390829803

Cited by 10 publications

(2 citation statements)

References 2 publications

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“…To our knowledge, apart from the common R208X mutation that has been identified in Vietnamese cases, no other common mutations have been determined. 1,4,7 -15,17,20 -25,28,29,33 -59…”

Section: Molecular Analysis: Diagnostic Challengesmentioning

confidence: 99%

Beta-Ketothiolase Deficiency

Abdelkreem

Otsuka

Sasai

et al. 2016

Journal of Inborn Errors of Metabolism and Screening

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Beta-ketothiolase deficiency is an inherited disorder of ketone body metabolism and isoleucine catabolism. It typically manifests as recurrent ketoacidotic episodes with characteristic abnormalities in the urinary organic acid profile. However, several challenges in the diagnosis of beta-ketothiolase deficiency have been encountered: atypical presentations have been reported and some other disorders, such as succinyl-CoA:3-oxoacid CoA transferase and 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiencies, can mimic the clinical and/or biochemical signs of betaketothiolase deficiency. A final diagnosis of beta-ketothiolase deficiency requires an enzymatic assay and/or a molecular analysis, but some caveats must be considered. Despite the reported missed cases, screening programs have successfully identified an increasing number of patients with beta-ketothiolase deficiency. Early diagnosis and management of betaketothiolase deficiency will enable prevention of its serious acute and chronic complications and ultimately improve the prognosis.

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“…To our knowledge, apart from the common R208X mutation that has been identified in Vietnamese cases, no other common mutations have been determined. 1,4,7 -15,17,20 -25,28,29,33 -59…”

Section: Molecular Analysis: Diagnostic Challengesmentioning

confidence: 99%

Beta-Ketothiolase Deficiency

Abdelkreem

Otsuka

Sasai

et al. 2016

Journal of Inborn Errors of Metabolism and Screening

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“…There is only one case in literature that is reported along with hyperglycinemia. 6,7 In this article, this case has been proposed although it is rare since it is a genetic disease that needs to be considered within diseases resulting in ketoacidosis and lethargy.…”

Section: Introductionmentioning

confidence: 99%

Beta-ketothiolase deficiency brought with lethargy: Case report

Arıca

Dağ

et al. 2011

Hum Exp Toxicol

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Beta-ketothiolase deficiency is a rare autosomal recessive disorder of isoleucine and ketone body metabolism. This disorder is clinically characterized by ketoacidotic attacks. Ketoacidosis, vomiting, and dehydration, lethargy and coma may be seen during attacks. A 9-month-old girl was admitted to our hospital with acidosis and dehydration. The patient was lethargic. Ketoacidosis was suspected because of acetone odor on her breath. Her blood glucose level was 262 mg/dL and urine ketone was (++++). Branched chain amino acid levels were elevated in her blood sample. Organic acid analysis of urine revealed 2-methylacetoacetyl-CoA thiolase deficiency. This was reported because of rarity of the disease and we should consider it in the differential diagnosis of ketoacidotic episodes.

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