LCHAD deficiency with maternal acute fatty liver of pregnancy

MedGen UID:: 371508
•Concept ID:: C1833202
•: Finding

Synonym:	LCHAD DEFICIENCY WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY

OMIM®:	600890

Recent clinical studies

Etiology

Maternal heterozygosity for a mitochondrial trifunctional protein mutation as a cause for liver disease in pregnancy.

Blish KR, Ibdah JA
Med Hypotheses 2005;64(1):96-100. doi: 10.1016/j.mehy.2004.06.005. PMID: 15533621

Maternal acute fatty liver of pregnancy and the associated risk for long-chain 3-hydroxyacyl-coenzyme a dehydrogenase (LCHAD) deficiency in infants.

Bellig LL
Adv Neonatal Care 2004 Feb;4(1):26-32. doi: 10.1016/j.adnc.2003.12.001. PMID: 14988877

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Diagnosis

A 24-Year-Old Woman Presenting in the Third Trimester of Pregnancy with Nausea, Vomiting, and Abdominal Pain and Diagnosed with Acute Fatty Liver of Pregnancy.

Naothavorn W, Thanapongpibul C, Sriudomporn K, Ruangkit C, Srivanitchapoom N, Tungtrongchitr N
Am J Case Rep 2022 Aug 24;23:e937085. doi: 10.12659/AJCR.937085. PMID: 35999773 Free PMC Article

Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.

Bo R, Yamada K, Kobayashi H, Jamiyan P, Hasegawa Y, Taketani T, Fukuda S, Hata I, Niida Y, Shigematsu Y, Iijima K, Yamaguchi S
J Hum Genet 2017 Sep;62(9):809-814. Epub 2017 May 18 doi: 10.1038/jhg.2017.52. PMID: 28515471

Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.

Kobayashi T, Minami S, Mitani A, Tanizaki Y, Booka M, Okutani T, Yamaguchi S, Ino K
J Obstet Gynaecol Res 2015 May;41(5):799-802. Epub 2014 Nov 25 doi: 10.1111/jog.12609. PMID: 25420603

Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.

Gutiérrez Junquera C, Balmaseda E, Gil E, Martínez A, Sorli M, Cuartero I, Merinero B, Ugarte M
Eur J Pediatr 2009 Jan;168(1):103-6. Epub 2008 Apr 12 doi: 10.1007/s00431-008-0696-z. PMID: 18408953

Maternal acute fatty liver of pregnancy and the associated risk for long-chain 3-hydroxyacyl-coenzyme a dehydrogenase (LCHAD) deficiency in infants.

Bellig LL
Adv Neonatal Care 2004 Feb;4(1):26-32. doi: 10.1016/j.adnc.2003.12.001. PMID: 14988877

See all (5)

Therapy

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.

Ibdah JA, Dasouki MJ, Strauss AW
J Inherit Metab Dis 1999 Oct;22(7):811-4. doi: 10.1023/a:1005506024055. PMID: 10518281

See all (1)

Prognosis

Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.

Kobayashi T, Minami S, Mitani A, Tanizaki Y, Booka M, Okutani T, Yamaguchi S, Ino K
J Obstet Gynaecol Res 2015 May;41(5):799-802. Epub 2014 Nov 25 doi: 10.1111/jog.12609. PMID: 25420603

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.

Ibdah JA, Dasouki MJ, Strauss AW
J Inherit Metab Dis 1999 Oct;22(7):811-4. doi: 10.1023/a:1005506024055. PMID: 10518281

See all (2)