Homozygous acute intermittent porphyria in a 7‐year‐old boy with massive excretions of porphyrins and porphyrin precursors

Hessels, Jan; Voortman, Gardi; Wagen, A. van der; Elzen, C. van der; Scheffer, Hans; Zuijderhoudt, F. M. J.

doi:10.1023/b:boli.0000016613.75677.05

Cited by 28 publications

(17 citation statements)

References 12 publications

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“…Urinary levels of ALA and PBG dramatically decreased following each infusion but failed to reach reference intervals. AIP diagnosis in our patient was confirmed by DNA analysis, which also excluded other possible abnormalities in other genes of heme synthetic pathway [15]. The dissociation between clinical and biochemical outcome emphasizes uncertainties in pathological issues of AIP.…”

Section: (Section B)supporting

confidence: 60%

Acute Intermittent Porphyria in a Child with Severe Neuropathy

Pierro¹,

Granata²,

Rosafio³

et al. 2018

J Blood Lymph

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Section: (Section B)supporting

confidence: 60%

Acute Intermittent Porphyria in a Child with Severe Neuropathy

Pierro¹,

Granata²,

Rosafio³

et al. 2018

J Blood Lymph

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“…Visible pigmentation as a result of uroporphyrin also occurs in some annelids [ 62 ], mammalian teeth [ 63 , 64 ], the eggshells of some bird species [ 65 , 66 ] and in the integument of some terrestrial and marine gastropods lacking shells. As a result of these occurrences it has been suggested that the deposition of uroporphyrin is closely connected with calcium metabolism [ 67 ], even though it is also known to occur in invertebrate integument and vertebrate skin.…”

Section: Discussionmentioning

confidence: 99%

Identification of Shell Colour Pigments in Marine Snails Clanculus pharaonius and C. margaritarius (Trochoidea; Gastropoda)

et al. 2016

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Colour and pattern are key traits with important roles in camouflage, warning and attraction. Ideally, in order to begin to understand the evolution and ecology of colour in nature, it is important to identify and, where possible, fully characterise pigments using biochemical methods. The phylum Mollusca includes some of the most beautiful exemplars of biological pigmentation, with the vivid colours of sea shells particularly prized by collectors and scientists alike. Biochemical studies of molluscan shell colour were fairly common in the last century, but few of these studies have been confirmed using modern methods and very few shell pigments have been fully characterised. Here, we use modern chemical and multi-modal spectroscopic techniques to identify two porphyrin pigments and eumelanin in the shell of marine snails Clanculus pharaonius and C margaritarius. The same porphyrins were also identified in coloured foot tissue of both species. We use high performance liquid chromatography (HPLC) to show definitively that these porphyrins are uroporphyrin I and uroporphyrin III. Evidence from confocal microscopy analyses shows that the distribution of porphyrin pigments corresponds to the striking pink-red of C. pharaonius shells, as well as pink-red dots and lines on the early whorls of C. margaritarius and yellow-brown colour of later whorls. Additional HPLC results suggest that eumelanin is likely responsible for black spots. We refer to the two differently coloured porphyrin pigments as trochopuniceus (pink-red) and trochoxouthos (yellow-brown) in order to distinguish between them. Trochopuniceus and trochoxouthos were not found in the shell of a third species of the same superfamily, Calliostoma zizyphinum, despite its superficially similar colouration, suggesting that this species has different shell pigments. These findings have important implications for the study of colour and pattern in molluscs specifically, but in other taxa more generally, since this study shows that homology of visible colour cannot be assumed without identification of pigments.

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“…With elder genetic relatives of patients with acute intermittent porphyria, an analysis of their DNA could be helpful if their urinary excretion of porphyrin precursors and porphyrins is equivocal. A case of a young boy with homozygous acute intermittent porphyria and excessive excretion of urinary haem precursors has been reported (Hessels et al 2004). His parents were shown to be gene carriers.…”

Section: Discussionmentioning

confidence: 99%

Biochemical compared to molecular diagnosis in acute intermittent porphyria

Groß¹,

Puy

Jacob³

et al. 2006

J of Inher Metab Disea

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The biochemical and the molecular diagnoses of an inherited porphyria require experience. False positive or negative screening tests and the low penetrance of the disease make a correct diagnosis difficult.The biochemical and the molecular procedures for the diagnosis of acute intermittent porphyria were applied to five unrelated patients suffering from acute intermittent porphyria. All patients were shown to be gene carriers of acute intermittent porphyria by both methods. The two different possibilities of the diagnosis corresponded well. In a family definitively identified by molecular diagnosis of one of the patients and his relatives, the patient's two children were asymptomatic. His son was shown to be a gene carrier of the father's deficiency by biochemical as well as molecular analysis, whereas his daughter was not affected by acute intermittent porphyria.

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Homozygous acute intermittent porphyria in a 7‐year‐old boy with massive excretions of porphyrins and porphyrin precursors

Cited by 28 publications

References 12 publications

Acute Intermittent Porphyria in a Child with Severe Neuropathy

Acute Intermittent Porphyria in a Child with Severe Neuropathy

Identification of Shell Colour Pigments in Marine Snails Clanculus pharaonius and C. margaritarius (Trochoidea; Gastropoda)

Biochemical compared to molecular diagnosis in acute intermittent porphyria

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