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GENATLAS PHENOTYPE
last update : 30/09/2005
Symbol ALADD
Location 9q33.3
Name ALAD deficiency
Other name(s) Doss porphyria porphyria, acute, hepatic
Corresponding gene ALAD
Main clinical features ALAD-deficient porphyria had remarkably distinct phenotypes, ranging from a severe affection with failure to thrive to an essentially asymptomatic form
Genetic determination autosomal recessive
Function/system disorder metabolism/porphyrin and heme
Type disease
Remark(s) porphyria-associated PBGS variants are found to shift the morpheein equilibrium for PBGS toward the less active hexamer and ALAD porphyria is the first example of a morpheein-based conformational disease