Childhood porphyrias: implications and treatments.
In describing the clinical, biochemical, and family findings in five children with porphyria, we examine initial treatments and, where appropriate, the effectiveness of long-term therapy. We note that porphyria diagnosis, particularly in childhood, relies heavily on specialist laboratory investigations. Because disease expression in some porphyrias requires exposure to precipitating factors, it may be prevented or delayed by their avoidance.
Badcock
N R
NR
Department of Chemical Pathology, Adelaide Children's Hospital, South Australia.
O'Reilly
D A
DA
Zoanetti
G D
GD
Robertson
E F
EF
Parker
C J
CJ
D000293:Adolescent; D000368:Aged; D000622:Aminolevulinic Acid / Q000652:urine; D002648:Child; D002675:Child, Preschool; D003304:Coproporphyrinogen Oxidase / Q000097:blood; D005260:Female; D005420:Flavoproteins; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood; D008297:Male; D024101:Mitochondrial Proteins; D010088:Oxidoreductases / Q000097:blood; D044925:Oxidoreductases Acting on CH-CH Group Donors; D011162:Porphobilinogen / Q000652:urine; D011164:Porphyrias / Q000175:diagnosis* / Q000628:therapy*; D050768:Protoporphyrinogen Oxidase; D012016:Reference Values; D014575:Uroporphyrinogen Decarboxylase / Q000097:blood
D005420:Flavoproteins; D024101:Mitochondrial Proteins; D011162:Porphobilinogen; D000622:Aminolevulinic Acid; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D003304:Coproporphyrinogen Oxidase; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase; D011163:Hydroxymethylbilane Synthase; D014575:Uroporphyrinogen Decarboxylase