Mutations identified in ALA dehydratase porphyria (ADP)

Case	Age (years)	Location	Mutations		Reference(s)
1	15	Germany	V153M	818delITC	Akagi R, Shimizu R, Furuyama K, et al. Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria. Hepatology 2000; 31:704.
2	15	Germany	R240W	A274T	Ishida N, Fujita H, Noguchi T, et al. Message amplification phenotyping of an inherited delta-aminolevulinate dehydratase deficiency in a family with acute hepatic porphyria. Biochem Biophys Res Commun 1990; 172:237. Ishida N, Fujita H, Fukuda Y, et al. Cloning and expression of the defective genes from a patient with d-aminolevulinate dehydratase porphyria. J Clin Invest 1992; 89:1431.
3	Birth	Sweden	G133R	V275M	Plewinska M, Thunell S, Holmberg L, et al. D-aminolevulinate dehydratase deficient porphyria: Identification of the molecular lesions in a severely affected homozygote. Am J Hum Genet 1991; 49:167. Maruno M, Furuyama K, Akagi R, et al. Highly heterogeneous nature of delta-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria. Blood 2001; 97:2972.
4	63	Belgium	K59N; G133R		Akagi R, Nishitani C, Harigae H, et al. Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria. Blood 2000; 96:3618.
5	15	Germany	–11C>T	–11C>A	Doss MO, Stauch T, Gross U, et al. The third case of doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany. J Inherit Metab Dis 2004; 27:529.
6	14	United States	E89K	C132R	Akagi R, Kato N, Inoue R, et al. D-aminolevulinate dehydratase (ALAD) porphyria: The first case in north america with two novel ALAD mutations. Mol Genet Metab 2006; 87:329.
7	7	Germany	V242I	G280E	Uche Holub E. Compound heterozygosity for novel mutations in the delta-aminolevulinate dehydratase gene associated with childhood onset of severe acute hepatic porphyria. Clin Chem Lab Med 2013; 51:eA25.
8	Birth	Netherlands	c.114-11C>T	c.164+2T>A	Neeleman RA, van Beers EJ, Friesema EC, et al. Clinical remission of delta-aminolevulinic acid dehydratase deficiency through suppression of erythroid heme synthesis. Hepatology 2019; 70:434.

The table shows mutations identified in ALA dehydratase porphyria (ADP) in order of the initial case reports. Please refer to the UpToDate topic on ADP for further details.

ALA: delta-aminolevulinic acid; ADP: ALA dehydratase porphyria.

Graphic 90313 Version 2.0

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Mutations identified in ALA dehydratase porphyria (ADP)