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Abnormal circulating porphyrin concentration

MedGen UID:
869387
Concept ID:
C4023814
Finding
Synonym: Abnormality of the heme biosynthetic pathway
 
HPO: HP:0010472

Definition

An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes. [from HPO]

Conditions with this feature

UV-sensitive syndrome 2
MedGen UID:
766212
Concept ID:
C3553298
Disease or Syndrome
UV-sensitive syndrome-2 (UVSS2) is an autosomal recessive disorder characterized by cutaneous photosensitivity and increased freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Nardo et al., 2009). See also Cockayne syndrome type A (CSA; 216400), an allelic disorder with a more severe phenotype including neurologic symptoms and skeletal abnormalities. For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (600630).

Recent clinical studies

Therapy

Lin GC, Tsoukas ML, Lee MS, González S, Vibhagool C, Anderson RR, Kollias N
Photochem Photobiol 1998 Oct;68(4):575-83. PMID: 9796441
Simionatto CS, Cabal R, Jones RL, Galbraith RA
Am J Med 1988 Oct;85(4):538-40. doi: 10.1016/s0002-9343(88)80092-5. PMID: 3177402
Lamon JM, Poh-Fitzpatrick MB, Lamola AA
Gastroenterology 1980 Jul;79(1):115-25. PMID: 7380207

Clinical prediction guides

Simionatto CS, Cabal R, Jones RL, Galbraith RA
Am J Med 1988 Oct;85(4):538-40. doi: 10.1016/s0002-9343(88)80092-5. PMID: 3177402

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