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Article

delta-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations.

Molecular genetics and metabolism - 1 Apr 2006

Akagi Reiko, Kato Noriko, Inoue Rikako, Anderson Karl E, Jaffe Eileen K, Sassa Shigeru

Abstract excerpt

The molecular basis of the enzymatic defect responsible for delta-aminolevulinate dehydratase (ALAD) porphyria (ADP) was investigated in a 14-year-old male who presented clinical and laboratory findings typical of ADP. Nucleotide sequence analysis of ALAD cDNAs from the proband revealed two novel mutations, a 265G to A base transition (C1) and a 394C to T base transition (C2), resulting in amino acid...

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Source

Identifiers

PMID: 16343966
DOI: 10.1016/j.ymgme.2005.10.011

Genes

ALAD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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