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Porphobilinogen deaminase deficiency

MedGen UID:
423614
•Concept ID:
C2936779
•
Disease or Syndrome
Synonyms: Deaminase Deficiencies, Porphobilinogen; Deaminase Deficiency, Porphobilinogen; Deficiencies, Hydroxymethylbilane Synthase; Deficiencies, PBGD; Deficiencies, Porphobilinogen Deaminase; Deficiencies, UPS; Deficiencies, Uroporphyrinogen Synthase; Deficiency, Hydroxymethylbilane Synthase; Deficiency, PBGD; Deficiency, Porphobilinogen Deaminase; Deficiency, UPS; Deficiency, Uroporphyrinogen Synthase; Hydroxymethylbilane Synthase Deficiencies; Hydroxymethylbilane Synthase Deficiency; PBGD Deficiencies; PBGD Deficiency; Porphobilinogen Deaminase Deficiencies; Porphobilinogen Deaminase Deficiency; Porphyria, Swedish Type; Porphyrias, Swedish Type; Swedish Type Porphyria; Swedish Type Porphyrias; Synthase Deficiencies, Hydroxymethylbilane; Synthase Deficiencies, Uroporphyrinogen; Synthase Deficiency, Hydroxymethylbilane; Synthase Deficiency, Uroporphyrinogen; Type Porphyria, Swedish; Type Porphyrias, Swedish; UPS Deficiencies; UPS Deficiency; Uroporphyrinogen Synthase Deficiencies; Uroporphyrinogen Synthase Deficiency
SNOMED CT: Porphobilinogen deaminase deficiency (276263005); PBGD - Porphobilinogen deaminase deficiency (276263005); Uroporphyrinogen 1 synthase deficiency (276263005); PBGD deficiency (276263005)
 
OMIM®: 176000

Professional guidelines

PubMed

Long-term management and treatment of acute intermittent porphyria with recurring attacks using pharmacological prophylaxis.
Kuo HC, Ro LS, Lin CN, Chen HY
Hepatol Commun 2023 Dec 1;7(12) doi: 10.1097/HC9.0000000000000327. PMID: 38051544Free PMC Article
AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Best practice guidelines on clinical management of acute attacks of porphyria and their complications.
Stein P, Badminton M, Barth J, Rees D, Stewart MF; British and Irish Porphyria Network
Ann Clin Biochem 2013 May;50(Pt 3):217-23. doi: 10.1177/0004563212474555. PMID: 23605132

Recent clinical studies

Etiology

Transcriptome profile analysis reveals putative molecular mechanisms of 5-aminolevulinic acid toxicity.
Menezes PR, Trufen CEM, Lichtenstein F, Pellegrina DVDS, Reis EM, Onuki J
Arch Biochem Biophys 2023 Apr;738:109540. Epub 2023 Feb 4 doi: 10.1016/j.abb.2023.109540. PMID: 36746260
Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.
Weinlich G, Doss MO, Sepp N, Fritsch P
Acta Derm Venereol 2001 Oct-Nov;81(5):356-9. doi: 10.1080/000155501317140098. PMID: 11800145

Diagnosis

The diagnosis of acute intermittent porphyria combined with seizures: Case report.
Wang Z, Cheng L, Liang X, Jiang H, Shen R
Medicine (Baltimore) 2023 Dec 15;102(50):e36167. doi: 10.1097/MD.0000000000036167. PMID: 38115298Free PMC Article
Transcriptome profile analysis reveals putative molecular mechanisms of 5-aminolevulinic acid toxicity.
Menezes PR, Trufen CEM, Lichtenstein F, Pellegrina DVDS, Reis EM, Onuki J
Arch Biochem Biophys 2023 Apr;738:109540. Epub 2023 Feb 4 doi: 10.1016/j.abb.2023.109540. PMID: 36746260
Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.
Weinlich G, Doss MO, Sepp N, Fritsch P
Acta Derm Venereol 2001 Oct-Nov;81(5):356-9. doi: 10.1080/000155501317140098. PMID: 11800145
Molecular forms of porphobilinogen deaminase in acute intermittent porphyria. A study by Western immunoblotting.
Nunn AV, Gardner LC, Cox TM
Q J Med 1987 Jul;64(243):589-99. PMID: 3671663
Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect.
Anderson PM, Reddy RM, Anderson KE, Desnick RJ
J Clin Invest 1981 Jul;68(1):1-12. doi: 10.1172/jci110223. PMID: 7251856Free PMC Article

Prognosis

Transcriptome profile analysis reveals putative molecular mechanisms of 5-aminolevulinic acid toxicity.
Menezes PR, Trufen CEM, Lichtenstein F, Pellegrina DVDS, Reis EM, Onuki J
Arch Biochem Biophys 2023 Apr;738:109540. Epub 2023 Feb 4 doi: 10.1016/j.abb.2023.109540. PMID: 36746260

Clinical prediction guides

Transcriptome profile analysis reveals putative molecular mechanisms of 5-aminolevulinic acid toxicity.
Menezes PR, Trufen CEM, Lichtenstein F, Pellegrina DVDS, Reis EM, Onuki J
Arch Biochem Biophys 2023 Apr;738:109540. Epub 2023 Feb 4 doi: 10.1016/j.abb.2023.109540. PMID: 36746260
Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect.
Anderson PM, Reddy RM, Anderson KE, Desnick RJ
J Clin Invest 1981 Jul;68(1):1-12. doi: 10.1172/jci110223. PMID: 7251856Free PMC Article

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