Inborn errors of ketone body utilization. Issue 1 (25th February 2015)
- Record Type:
- Journal Article
- Title:
- Inborn errors of ketone body utilization. Issue 1 (25th February 2015)
- Main Title:
- Inborn errors of ketone body utilization
- Authors:
- Hori, Tomohiro
Yamaguchi, Seiji
Shinkaku, Haruo
Horikawa, Reiko
Shigematsu, Yosuke
Takayanagi, Masaki
Fukao, Toshiyuki - Abstract:
- Abstract: Succinyl‐CoA:3‐ketoacid CoA transferase (SCOT) deficiency and mitochondrial acetoacetyl‐CoA thiolase (beta‐ketothiolase or T2) deficiency are classified as autosomal recessive disorders of ketone body utilization characterized by intermittent ketoacidosis. Patients with mutations retaining no residual activity on analysis of expression of mutant cDNA are designated as severe genotype, and patients with at least one mutation retaining significant residual activity, as mild genotype. Permanent ketosis is a pathognomonic characteristic of SCOT‐deficient patients with severe genotype. Patients with mild genotype, however, may not have permanent ketosis, although they may develop severe ketoacidotic episodes similar to patients with severe genotype. Permanent ketosis has not been reported in T2 deficiency. In T2‐deficient patients with severe genotype, biochemical diagnosis is done on urinary organic acid analysis and blood acylcarnitine analysis to observe characteristic findings during both ketoacidosis and non‐episodic conditions. In Japan, however, it was found that T2‐deficient patients with mild genotype are common, and typical profiles were not identified on these analyses. Based on a clinical study of ketone body utilization disorders both in Japan and worldwide, we have developed guidelines for disease diagnosis and treatment. These diseases are treatable by avoiding fasting and by providing early infusion of glucose, which enable the patients to grow withoutAbstract: Succinyl‐CoA:3‐ketoacid CoA transferase (SCOT) deficiency and mitochondrial acetoacetyl‐CoA thiolase (beta‐ketothiolase or T2) deficiency are classified as autosomal recessive disorders of ketone body utilization characterized by intermittent ketoacidosis. Patients with mutations retaining no residual activity on analysis of expression of mutant cDNA are designated as severe genotype, and patients with at least one mutation retaining significant residual activity, as mild genotype. Permanent ketosis is a pathognomonic characteristic of SCOT‐deficient patients with severe genotype. Patients with mild genotype, however, may not have permanent ketosis, although they may develop severe ketoacidotic episodes similar to patients with severe genotype. Permanent ketosis has not been reported in T2 deficiency. In T2‐deficient patients with severe genotype, biochemical diagnosis is done on urinary organic acid analysis and blood acylcarnitine analysis to observe characteristic findings during both ketoacidosis and non‐episodic conditions. In Japan, however, it was found that T2‐deficient patients with mild genotype are common, and typical profiles were not identified on these analyses. Based on a clinical study of ketone body utilization disorders both in Japan and worldwide, we have developed guidelines for disease diagnosis and treatment. These diseases are treatable by avoiding fasting and by providing early infusion of glucose, which enable the patients to grow without sequelae. … (more)
- Is Part Of:
- Pediatrics international. Volume 57:Issue 1(2015)
- Journal:
- Pediatrics international
- Issue:
- Volume 57:Issue 1(2015)
- Issue Display:
- Volume 57, Issue 1 (2015)
- Year:
- 2015
- Volume:
- 57
- Issue:
- 1
- Issue Sort Value:
- 2015-0057-0001-0000
- Page Start:
- 41
- Page End:
- 48
- Publication Date:
- 2015-02-25
- Subjects:
- inborn errors of ketone body utilization -- ketone body -- ketone body metabolism -- mitochondrial acetoacetyl‐CoA thiolase (beta‐ketothiolase/T2) deficiency -- succinyl‐CoA:3‐ketoacid CoA transferase (SCOT) deficiency
Pediatrics -- Periodicals
618.92 - Journal URLs:
- http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1442-200X/issues. Subscription to online journal required for access to full text. ↗
http://onlinelibrary.wiley.com/ ↗ - DOI:
- 10.1111/ped.12585 ↗
- Languages:
- English
- ISSNs:
- 1328-8067
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
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- British Library DSC - 6417.655800
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