A retrospective study of a patient with homozygous form of acute intermittent porphyria.
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.
Beukeveld
G J
GJ
Central Laboratory for Clinical Chemistry, University Hospital Groningen, The Netherlands.
Wolthers
B G
BG
Nordmann
Y
Y
Deybach
J C
JC
Grandchamp
B
B
Wadman
S K
SK
D000208:Acute Disease; D000622:Aminolevulinic Acid / Q000652:urine; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006720:Homozygote; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood; D007223:Infant; D007231:Infant, Newborn; D007962:Leukocytes / Q000201:enzymology; D011164:Porphyrias / Q000235:genetics* / Q000652:urine; D012189:Retrospective Studies; D014577:Uroporphyrinogens / Q000652:urine; D014578:Uroporphyrins / Q000652:urine
D014577:Uroporphyrinogens; D014578:Uroporphyrins; D000622:Aminolevulinic Acid; D011163:Hydroxymethylbilane Synthase