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Episodic ketoacidosis

MedGen UID:
349256
Concept ID:
C1859860
Finding
Synonym: Ketoacidosis, episodic
 
HPO: HP:0005974

Definition

Intermittent episodes of ketoacidosis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpisodic ketoacidosis

Conditions with this feature

3-Hydroxyisobutyric aciduria
MedGen UID:
90996
Concept ID:
C0342737
Disease or Syndrome
A rare classic organic aciduria characterized by tissue accumulation and elevation of urinary excretion of 3-hydroxyisobutyric acid. The clinical phenotype ranges from recurrent mild episodes of vomiting with normal cognitive development, to massive acidosis, seizures, and failure to thrive with profound intellectual disability and early death. Dysmorphic craniofacial features (such as microcephaly, triangular face, short, sloping forehead, long, prominent philtrum, and micrognathia) and variable cerebral anomalies have also been described.
Succinyl-CoA acetoacetate transferase deficiency
MedGen UID:
137979
Concept ID:
C0342792
Disease or Syndrome
Ketone bodies are major vectors of energy transfer from the liver to extrahepatic tissues and are the main source of lipid-derived energy for the brain. Mitchell et al. (1995) reviewed medical aspects of ketone body metabolism, including the differential diagnosis of abnormalities. As the first step of ketone body utilization, succinyl-CoA:3-oxoacid CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) catalyzes the reversible transfer of CoA from succinyl-CoA to acetoacetate.
Deficiency of acetyl-CoA acetyltransferase
MedGen UID:
280689
Concept ID:
C1536500
Disease or Syndrome
Alpha-methylacetoacetic aciduria, also known as 3-ketothiolase deficiency, is an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and 2-butanone.
Mitochondrial complex III deficiency nuclear type 6
MedGen UID:
815883
Concept ID:
C3809553
Disease or Syndrome
Mitochondrial complex III deficiency nuclear type 6 (MC3DN6) is an autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal (summary by Gaignard et al., 2013). For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000).

Professional guidelines

PubMed

Bonadio W
Clin Pediatr (Phila) 2023 Jun;62(6):551-564. Epub 2022 Nov 25 doi: 10.1177/00099228221139982. PMID: 36433643
Gaba R, Mehta P, Balasubramanyam A
Expert Rev Endocrinol Metab 2019 Jan;14(1):43-48. Epub 2019 Jan 7 doi: 10.1080/17446651.2019.1561270. PMID: 30612498
Peters AL, Buschur EO, Buse JB, Cohan P, Diner JC, Hirsch IB
Diabetes Care 2015 Sep;38(9):1687-93. Epub 2015 Jun 15 doi: 10.2337/dc15-0843. PMID: 26078479Free PMC Article

Recent clinical studies

Etiology

Korman SH
Mol Genet Metab 2006 Dec;89(4):289-99. Epub 2006 Sep 6 doi: 10.1016/j.ymgme.2006.07.010. PMID: 16950638

Diagnosis

Abdelkreem E, Harijan RK, Yamaguchi S, Wierenga RK, Fukao T
Hum Mutat 2019 Oct;40(10):1641-1663. Epub 2019 Jul 3 doi: 10.1002/humu.23831. PMID: 31268215Free PMC Article
Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Barić I, Zabot MT, Kondo N
Biochim Biophys Acta 2011 May;1812(5):619-24. Epub 2011 Feb 2 doi: 10.1016/j.bbadis.2011.01.015. PMID: 21296660
Fukao T, Kursula P, Owen EP, Kondo N
Mol Genet Metab 2007 Nov;92(3):216-21. Epub 2007 Aug 13 doi: 10.1016/j.ymgme.2007.07.005. PMID: 17706444
Korman SH
Mol Genet Metab 2006 Dec;89(4):289-99. Epub 2006 Sep 6 doi: 10.1016/j.ymgme.2006.07.010. PMID: 16950638
Fukao T, Shintaku H, Kusubae R, Zhang GX, Nakamura K, Kondo M, Kondo N
Pediatr Res 2004 Dec;56(6):858-63. Epub 2004 Oct 20 doi: 10.1203/01.PDR.0000145297.90577.67. PMID: 15496607

Therapy

Mayatepek E, Hoffmann GF, Baumgartner R, Schulze A, Jakobs C, Trefz FK, Bremer HJ
Eur J Pediatr 1996 May;155(5):398-403. doi: 10.1007/BF01955272. PMID: 8741039

Prognosis

Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Barić I, Zabot MT, Kondo N
Biochim Biophys Acta 2011 May;1812(5):619-24. Epub 2011 Feb 2 doi: 10.1016/j.bbadis.2011.01.015. PMID: 21296660
Korman SH
Mol Genet Metab 2006 Dec;89(4):289-99. Epub 2006 Sep 6 doi: 10.1016/j.ymgme.2006.07.010. PMID: 16950638
Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N
Genomics 2000 Sep 1;68(2):144-51. doi: 10.1006/geno.2000.6282. PMID: 10964512
Mayatepek E, Hoffmann GF, Baumgartner R, Schulze A, Jakobs C, Trefz FK, Bremer HJ
Eur J Pediatr 1996 May;155(5):398-403. doi: 10.1007/BF01955272. PMID: 8741039

Clinical prediction guides

Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Barić I, Zabot MT, Kondo N
Biochim Biophys Acta 2011 May;1812(5):619-24. Epub 2011 Feb 2 doi: 10.1016/j.bbadis.2011.01.015. PMID: 21296660
Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N
Genomics 2000 Sep 1;68(2):144-51. doi: 10.1006/geno.2000.6282. PMID: 10964512

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