Acute fatty liver of pregnancy: An update on pathogenesis and clinical implications

Table 1 Genotypes and phenotypes in 24 families with MTP defects

Number offamilies	Biochemicalphenotype	Pediatric phenotype	Proteinexpression	Pediatricphenotype	Maternalphenotype
19	LCHAD	Homozygous G1528C (8)	Normal	Hepatic (7) Mixed (1)	AFLP (6) Normal (1) HELLP (1)
		Compound heterozygous (11) G1528C/splice site (3) G1528C/stop codon (7) G1528C/?1	Reduced	Hepatic (9) Mixed (1) Unknown (1)	AFLP (7) HELLP (1) Normal (3)
5	MTP	Homozygous (1) (A→7G missplice), exon 7	Absent	Cardiac	Normal
		Compound Heterozygous (2) (G + 1A missplice/A + 3G missplice), exon 3 ( C2026T/C2027A), exon 19	Absent Absent	Cardiac Cardiac	Normal Normal
		Homozygous (T845A), exon 9	Reduced	Neuromuscular	Normal
		Compound heterozygous (T914A,/ C871T), exon 9	Reduced	Neuromuscular	Normal

¹Unknown mutation; AFLP–acute fatty liver of pregnancy; HELLP–hemolysis, elevated liver enzymes and low platelets syndrome.