Premium
A retrospective study of a patient with homozygous form of acute intermittent porphyria
Author(s) -
Beukeveld G. J. J.,
Wolthers B. G.,
Nordmann Y.,
Deybach J. C.,
Grandchamp B.,
Wadman S. K.
Publication year - 1990
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799566
Subject(s) - acute intermittent porphyria , medicine , porphyria , retrospective cohort study , human genetics , pediatrics , intensive care medicine , biology , genetics , gene
Summary In 1964 a child with an exceptional form of porphyria was described; she excreted persistently excessive amounts of delta‐aminolaevulinic acid, porphobilinogen and uroporphyrin in her urine from early childhood. The biochemical profile resembled that of acute intermittent porphyria (AIP). The child died at the age of 8 years. Reinvestigation of some urine samples by HPLC revealed differences in comparison with urines of other patients with AIP. The clinical picture characterized by porencephaly and severe retardation in development was completely different from that of AIP. Her mother suffered from AIP but the father never had attacks. Investigations on blood and urine samples of the father showed that he also was affected. Due to the early onset in the index patient, its persistent character, and the fact that both parents are affected we postulate retrospectively to have diagnosed a case of homozygous or a double heterozygous AIP, hitherto undescribed.