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Transient hyperlipidemia

MedGen UID:
340608
Concept ID:
C1850722
Finding
HPO: HP:0008279

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Transient hyperlipidemia

Conditions with this feature

Carnitine palmitoyl transferase 1A deficiency
MedGen UID:
316820
Concept ID:
C1829703
Disease or Syndrome
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a disorder of long-chain fatty acid oxidation. Clinical manifestations usually occur in an individual with a concurrent febrile or gastrointestinal illness when energy demands are increased; onset of symptoms is usually rapid. The recognized phenotypes are: acute fatty liver of pregnancy, in which the fetus has biallelic pathogenic variants in CPT1A that causes CPT1A deficiency; and hepatic encephalopathy, in which individuals (typically children) present with hypoketotic hypoglycemia and sudden onset of liver failure. Individuals with hepatic encephalopathy typically present with hypoglycemia, absent or low levels of ketones, and elevated serum concentrations of liver transaminases, ammonia, and total carnitine. Between episodes of hepatic encephalopathy, individuals appear developmentally and cognitively normal unless previous metabolic decompensation has resulted in neurologic damage.

Professional guidelines

PubMed

Gladstone DJ, Lindsay MP, Douketis J, Smith EE, Dowlatshahi D, Wein T, Bourgoin A, Cox J, Falconer JB, Graham BR, Labrie M, McDonald L, Mandzia J, Ngui D, Pageau P, Rodgerson A, Semchuk W, Tebbutt T, Tuchak C, van Gaal S, Villaluna K, Foley N, Coutts S, Mountain A, Gubitz G, Udell JA, McGuff R, Heran MKS, Lavoie P, Poppe AY; Canadian Stroke Consortium
Can J Neurol Sci 2022 May;49(3):315-337. Epub 2021 Jun 18 doi: 10.1017/cjn.2021.127. PMID: 34140063
Meschia JF, Bushnell C, Boden-Albala B, Braun LT, Bravata DM, Chaturvedi S, Creager MA, Eckel RH, Elkind MS, Fornage M, Goldstein LB, Greenberg SM, Horvath SE, Iadecola C, Jauch EC, Moore WS, Wilson JA; American Heart Association Stroke Council; Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; Council on Functional Genomics and Translational Biology; Council on Hypertension
Stroke 2014 Dec;45(12):3754-832. Epub 2014 Oct 28 doi: 10.1161/STR.0000000000000046. PMID: 25355838Free PMC Article
Kirshner HS
Curr Pharm Des 2012;18(33):5261-72. doi: 10.2174/138161212803251961. PMID: 22724413

Recent clinical studies

Etiology

Höcker B, Feneberg R, Köpf S, Weber LT, Waldherr R, Wühl E, Tönshoff B
Pediatr Transplant 2006 Aug;10(5):593-601. doi: 10.1111/j.1399-3046.2006.00526.x. PMID: 16856996
Lechner BL, Bockenhauer D, Iragorri S, Kennedy TL, Siegel NJ
Pediatr Nephrol 2004 Jul;19(7):744-8. Epub 2004 Apr 15 doi: 10.1007/s00467-004-1460-x. PMID: 15085419
Druml W, Grimm G, Laggner AN, Schneeweiss B, Lenz K
Klin Wochenschr 1991 Jul 22;69(10):426-9. doi: 10.1007/BF01666827. PMID: 1942954

Diagnosis

Liu MX, Wen XY, Leung YK, Zheng YJ, Jin MS, Jin QL, Niu JQ
Medicine (Baltimore) 2017 Nov;96(47):e8742. doi: 10.1097/MD.0000000000008742. PMID: 29381966Free PMC Article
Khorram O, Laughlin GA, Yen SS
J Clin Endocrinol Metab 1997 May;82(5):1472-9. doi: 10.1210/jcem.82.5.3943. PMID: 9141536

Therapy

Höcker B, Feneberg R, Köpf S, Weber LT, Waldherr R, Wühl E, Tönshoff B
Pediatr Transplant 2006 Aug;10(5):593-601. doi: 10.1111/j.1399-3046.2006.00526.x. PMID: 16856996
Evliyaoğlu O, Berberoğlu M, Ocal G, Adiyaman P, Aycan Z
J Pediatr Endocrinol Metab 2001 Jul-Aug;14(7):915-9. doi: 10.1515/jpem.2001.14.7.915. PMID: 11515734
Khorram O, Laughlin GA, Yen SS
J Clin Endocrinol Metab 1997 May;82(5):1472-9. doi: 10.1210/jcem.82.5.3943. PMID: 9141536

Prognosis

Lechner BL, Bockenhauer D, Iragorri S, Kennedy TL, Siegel NJ
Pediatr Nephrol 2004 Jul;19(7):744-8. Epub 2004 Apr 15 doi: 10.1007/s00467-004-1460-x. PMID: 15085419
Khorram O, Laughlin GA, Yen SS
J Clin Endocrinol Metab 1997 May;82(5):1472-9. doi: 10.1210/jcem.82.5.3943. PMID: 9141536

Clinical prediction guides

Höcker B, Feneberg R, Köpf S, Weber LT, Waldherr R, Wühl E, Tönshoff B
Pediatr Transplant 2006 Aug;10(5):593-601. doi: 10.1111/j.1399-3046.2006.00526.x. PMID: 16856996
Khorram O, Laughlin GA, Yen SS
J Clin Endocrinol Metab 1997 May;82(5):1472-9. doi: 10.1210/jcem.82.5.3943. PMID: 9141536

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