Zur Kenntnis der natürlichen Porphyrine. XVIII. Mitteilung. Chemische Befunde bei einem Fall von Porphyrinurie (Petry).

Fischer, Hans; Hilmer, Hans; Lindner, Fritz; Pützer, Bruno

doi:10.1515/bchm2.1926.150.1-4.44

Cited by 40 publications

(5 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There is evidence of the independence of porphyrin excretion from hemoglobin breakdown J Pediatr Gastroenterol Nutr, Vol. 3, No.3, 1984 (12,13). Furthermore, their origin from increased red cell destruction seems rather unlikely because the CP I, the only increased series, is biologically inactive and cannot be incorporated in heme or originate from its catabolism.…”

Section: Discussionmentioning

confidence: 99%

Coproporphyrin Excretion in Healthy Newborn Babies

Rocchi,

Balli,

Gibertini

et al. 1984

J. pediatr. gastroenterol. nutr.

View full text Add to dashboard Cite

SummaryThe urinary and fecal coproporphyrins (CP) undergo significant changes in cholestatic diseases of both adults and infants and their determination may provide a diagnostic tool. Little is known about CP excretion in the first days of life. The authors have studied the daily urinary and fecal excretion of CP as well as the I and III isomer distribution in 10 healthy newborn babies from 1 to 10 days old. CP were determined by the solvent partition method and the isomer distribution by thin‐layer chromatographic technique. Preliminary studies on urinary porphyrin pattern were performed using a personal high‐performance liquid chromatographic method. CP excretion was almost 10 times higher on the 1st day than on the 10th, when expressed by adult standards. The isomer I accounted for almost 80% of the total amount on the first days, whereas at the end of the study, both the CP total amount and isomer distribution overlapped the infant and adult pattern. The authors propose a personal interpretation based on a possible transient enzymatic defect in the metabolic chain of heme synthesis.

show abstract

Section: Discussionmentioning

confidence: 99%

Coproporphyrin Excretion in Healthy Newborn Babies

Rocchi,

Balli,

Gibertini

et al. 1984

J. pediatr. gastroenterol. nutr.

View full text Add to dashboard Cite

show abstract

“…His accomplishment was made possible in part because Mathias Petry, a famous patient with CEP, worked in his laboratory as a technician and provided urine and stool specimens. After Petry's death, Fischer performed an extensive autopsy which established the erythroid rather than hepatic pathophysiology of CEP 10 …”

Section: History Of Congenital Erythropoietic Porphyriamentioning

confidence: 99%

“…After Petry's death, Fischer performed an extensive autopsy which established the erythroid rather than hepatic pathophysiology of CEP. 10 The basis for the clinical diagnosis of CEP was established in 1955 11 and the deficient enzyme was identified as uroporphyrinogen III synthase (UROS, EC 4.2.1.75) in 1969. 12 The human UROS enzyme was purified and characterized from human erythrocytes in 1987 by Desnick and co-workers.…”

mentioning

confidence: 99%

Congenital erythropoietic porphyria

To‐Figueras,

Erwin,

Aguilera

et al. 2024

Liver International

View full text Add to dashboard Cite

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease due to the deficient, but not absent, activity of uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthesis pathway. Biallelic variants in the UROS gene result in decreased UROS enzymatic activity and the accumulation of non‐physiologic Type I porphyrins in cells and fluids. Overproduced uroporphyrins in haematopoietic cells are released into the circulation and distributed to tissues, inducing primarily hematologic and dermatologic symptoms. The clinical manifestations vary in severity ranging from non‐immune hydrops fetalis in utero to mild dermatologic manifestations in adults. Here, the biochemical, molecular and clinical features of CEP as well as current and new treatment options, including the rescue of UROS enzyme activity by chaperones, are presented.

show abstract

“…Gunther's assumption was that the dark pigment in the urine of patients with porphyria was the synthetic porphyrin, hematoporphyrin. Mathias Petry, the celebrated but unfortunate patient with congenital erythropoietic porphyria (EP), was the subject of extensive observations by Gunther between 1911 and 1936 that added tremendously to modern knowledge of porphyria and of the cutaneous photosensitivity associated with it 7,8 …”

Section: History and Classification Of Porphyriamentioning

confidence: 99%

“…Mathias Petry, the celebrated but unfortunate patient with congenital erythropoietic porphyria (EP), was the subject of extensive observations by Gunther between 1911 and 1936 that added tremendously to modern knowledge of porphyria and of the cutaneous photosensitivity associated with it. 7,8 Drug-Induced Porphyria. In 1889, Stokvis 9 reported two women who had acute abdominal pain and excreted dark red urine following the ingestion of the sedative sulfonal.…”

Section: History and Classification Of Porphyriamentioning

confidence: 99%

Past and Future: Porphyria and Porphyrins

Norman

2005

Skinmed

View full text Add to dashboard Cite

Porphyria is a compelling disease--disrupted enzyme pathways, heightened sensitivities, and a fascinating history tied in with tales of Dracula. This review discusses the history, pathophysiology, classification, and treatment of porphyria. It further discusses the way in which research on the etiologies of the various porphyrias has led to the development of porphyrin-based photodynamic therapy, which shows great promise in targeted therapy for a variety of serious pathologies.

show abstract

Zur Kenntnis der natürlichen Porphyrine. XVIII. Mitteilung. Chemische Befunde bei einem Fall von Porphyrinurie (Petry).

Cited by 40 publications

References 0 publications

Coproporphyrin Excretion in Healthy Newborn Babies

Coproporphyrin Excretion in Healthy Newborn Babies

Congenital erythropoietic porphyria

Past and Future: Porphyria and Porphyrins

Contact Info

Product

Resources

About