U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hyperketonemia

MedGen UID:
66722
Concept ID:
C0235430
Disease or Syndrome
Synonyms: Acetonemia; Acetonemias; Ketoacidemia; Ketoacidemias; Ketonemia; Ketonemias
SNOMED CT: Ketonemia (213281004)
 
HPO: HP:0410175

Definition

An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood. [from HPO]

Term Hierarchy

Conditions with this feature

Glutaric aciduria, type 1
MedGen UID:
124337
Concept ID:
C0268595
Disease or Syndrome
The phenotypic spectrum of untreated glutaric acidemia type 1 (GA-1) ranges from the more common form (infantile-onset disease) to the less common form (later-onset disease – i.e., after age 6 years). Of note, the GA-1 phenotype can vary widely between untreated family members with the same genotype, primarily as a function of the age at which the first acute encephalopathic crisis occurred: three months to six years in infantile-onset GA-1 and after age six years in later-onset GA-1. Characteristically these crises result in acute bilateral striatal injury and subsequent complex movement disorders. In the era of newborn screening (NBS), the prompt initiation of treatment of asymptomatic infants detected by NBS means that most individuals who would have developed manifestations of either infantile-onset or later-onset GA-1 remain asymptomatic; however, they may be at increased risk for other manifestations (e.g., renal disease) that are becoming apparent as the understanding of the natural history of treated GA-1 continues to evolve.
Phosphate transport defect
MedGen UID:
87455
Concept ID:
C0342749
Disease or Syndrome
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).
Mitochondrial complex 4 deficiency, nuclear type 7
MedGen UID:
1754683
Concept ID:
C5436685
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 7 (MC4DN7) is an autosomal recessive metabolic encephalomyopathic disorder with highly variable manifestations. Only a few patients have been reported. Some patients have normal early development then show rapid neurodegeneration with progressive muscle weakness, gait disturbances, and cognitive decline in mid to late childhood. Other features may include seizures and visual impairment. Brain imaging shows progressive leukodystrophy with cystic lesions. In contrast, at least 1 patient has been reported who presented in the neonatal period with metabolic acidosis, hydrocephalus, hypotonia, and cortical blindness. This patient developed hypertrophic cardiomyopathy resulting in early death. All patients had increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by Massa et al., 2008 and Abdulhag et al., 2015). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.

Professional guidelines

PubMed

Pralle RS, White HM
J Dairy Sci 2020 Apr;103(4):3867-3873. Epub 2020 Jan 15 doi: 10.3168/jds.2019-17379. PMID: 31954582
Chiasson JL, Aris-Jilwan N, Bélanger R, Bertrand S, Beauregard H, Ekoé JM, Fournier H, Havrankova J
CMAJ 2003 Apr 1;168(7):859-66. PMID: 12668546Free PMC Article
Schade DS, Eaton RP
JAMA 1979 May 11;241(19):2064-5. PMID: 107340

Recent clinical studies

Etiology

Vidić V, Ilić V, Toskić L, Janković N, Ugarković D
Clin Nutr 2021 Apr;40(4):1495-1502. Epub 2021 Feb 26 doi: 10.1016/j.clnu.2021.02.028. PMID: 33743284
Pralle RS, White HM
J Dairy Sci 2020 Apr;103(4):3867-3873. Epub 2020 Jan 15 doi: 10.3168/jds.2019-17379. PMID: 31954582
VanItallie TB
Metabolism 2015 Mar;64(3 Suppl 1):S51-7. Epub 2014 Oct 30 doi: 10.1016/j.metabol.2014.10.033. PMID: 25468143
Chiasson JL, Aris-Jilwan N, Bélanger R, Bertrand S, Beauregard H, Ekoé JM, Fournier H, Havrankova J
CMAJ 2003 Apr 1;168(7):859-66. PMID: 12668546Free PMC Article
Nosadini R, Fioretto P, Trevisan R, Crepaldi G
Diabetes Care 1991 Mar;14(3):210-9. doi: 10.2337/diacare.14.3.210. PMID: 2044436

Diagnosis

Hersant H, Grossberg G
J Nutr Health Aging 2022;26(6):606-614. doi: 10.1007/s12603-022-1807-7. PMID: 35718870
Dearlove DJ, Soto Mota A, Hauton D, Pinnick K, Evans R, Miller J, Fischer R, Mccullagh JSO, Hodson L, Clarke K, Cox PJ
Physiol Rep 2022 May;10(10):e15309. doi: 10.14814/phy2.15309. PMID: 35614576Free PMC Article
Rodriguez Z, Shepley E, Endres MI, Cramer G, Caixeta LS
J Dairy Sci 2022 May;105(5):4410-4420. Epub 2022 Feb 25 doi: 10.3168/jds.2021-20836. PMID: 35221059
Pralle RS, White HM
J Dairy Sci 2020 Apr;103(4):3867-3873. Epub 2020 Jan 15 doi: 10.3168/jds.2019-17379. PMID: 31954582
Palmiere C, Tettamanti C, Augsburger M, Burkhardt S, Sabatasso S, Lardi C, Werner D
J Forensic Leg Med 2016 Aug;42:51-5. Epub 2016 May 4 doi: 10.1016/j.jflm.2016.04.013. PMID: 27239954

Therapy

Hersant H, Grossberg G
J Nutr Health Aging 2022;26(6):606-614. doi: 10.1007/s12603-022-1807-7. PMID: 35718870
Luong TV, Abild CB, Bangshaab M, Gormsen LC, Søndergaard E
Nutrients 2022 Mar 22;14(7) doi: 10.3390/nu14071322. PMID: 35405935Free PMC Article
Vidić V, Ilić V, Toskić L, Janković N, Ugarković D
Clin Nutr 2021 Apr;40(4):1495-1502. Epub 2021 Feb 26 doi: 10.1016/j.clnu.2021.02.028. PMID: 33743284
Ramadori G, Ljubicic S, Ricci S, Mikropoulou D, Brenachot X, Veyrat-Durebex C, Aras E, Ioris RM, Altirriba J, Malle E, Foell D, Vogl T, Coppari R
Nat Commun 2019 Aug 7;10(1):3545. doi: 10.1038/s41467-019-11498-x. PMID: 31391467Free PMC Article
Chiasson JL, Aris-Jilwan N, Bélanger R, Bertrand S, Beauregard H, Ekoé JM, Fournier H, Havrankova J
CMAJ 2003 Apr 1;168(7):859-66. PMID: 12668546Free PMC Article

Prognosis

Wu HR, Chen KJ, Hsiao HP, Chao MC
J Pediatr Endocrinol Metab 2020 Nov 26;33(11):1481-1486. doi: 10.1515/jpem-2020-0106. PMID: 32841162
Lauritsen KM, Søndergaard E, Luong TV, Møller N, Gormsen LC
J Clin Endocrinol Metab 2020 Jun 1;105(6) doi: 10.1210/clinem/dgaa122. PMID: 32161953
Pralle RS, White HM
J Dairy Sci 2020 Apr;103(4):3867-3873. Epub 2020 Jan 15 doi: 10.3168/jds.2019-17379. PMID: 31954582
VanItallie TB
Metabolism 2015 Mar;64(3 Suppl 1):S51-7. Epub 2014 Oct 30 doi: 10.1016/j.metabol.2014.10.033. PMID: 25468143
Blomqvist G, Alvarsson M, Grill V, Von Heijne G, Ingvar M, Thorell JO, Stone-Elander S, Widén L, Ekberg K
Am J Physiol Endocrinol Metab 2002 Jul;283(1):E20-8. doi: 10.1152/ajpendo.00294.2001. PMID: 12067838

Clinical prediction guides

Rodriguez Z, Shepley E, Endres MI, Cramer G, Caixeta LS
J Dairy Sci 2022 May;105(5):4410-4420. Epub 2022 Feb 25 doi: 10.3168/jds.2021-20836. PMID: 35221059
Pralle RS, White HM
J Dairy Sci 2020 Apr;103(4):3867-3873. Epub 2020 Jan 15 doi: 10.3168/jds.2019-17379. PMID: 31954582
Kanikarla-Marie P, Jain SK
Cell Physiol Biochem 2015;35(1):364-73. Epub 2015 Jan 13 doi: 10.1159/000369702. PMID: 25591777Free PMC Article
VanItallie TB
Metabolism 2015 Mar;64(3 Suppl 1):S51-7. Epub 2014 Oct 30 doi: 10.1016/j.metabol.2014.10.033. PMID: 25468143
Balasse EO, Féry F
Diabetes Metab Rev 1989 May;5(3):247-70. doi: 10.1002/dmr.5610050304. PMID: 2656155

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...