Abstract
Porphyrias are rare metabolic disorders caused by inherited or acquired enzymatic defects in the heme biosynthetic pathway. They are grouped into acute hepatic porphyrias and photocutaneous porphyrias. Acute intermittent porphyria, the most prevalent subtype of acute hepatic porphyrias, is caused by a mutation in the hydroxymethylbilane synthase gene. In this work, a case of a 13 year-old Indian female presenting with multi-organ involvement (Neurological: episodic seizures, behavioral abnormalities, acute onset progressive flaccid-motor quadriparesis, multiple cranial nerve palsies, respiratory paralysis, dysautonomia, and posterior reversible encephalopathy syndrome; Gastrointestinal: recurrent attacks of abdominal pain, nausea/vomiting, isolated transaminitis, and acute pancreatitis; and Renal: metabolic alkalosis and refractory dyselectrolytemia) which resulted in significant diagnostic dilemmas. She was eventually diagnosed as a case of acute intermittent porphyria harboring a novel hydroxymethylbilane synthase gene mutation (p.Arg173Trp).
© 2022 Ghosh, León-Ruiz, Sardar, Naga, Roy, Ghosh, Dubey, Benito-León, licensee HBKU Press.
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2022-10-06
2024-03-29
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References
-
Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med. 2017 Aug 31; 377:9:862–872.
[Google Scholar]
-
Suh Y, Gandhi J, Seyam O, Jiang W, Joshi G, Smith NL, et al. Neurological and neuropsychiatric manifestations of porphyria. Int J Neurosci. 2019 Dec; 129:12:1226–1233.
[Google Scholar]
-
Elder G, Harper P, Badminton M, Sandberg S, Deybach JC. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis. 2013 Sep; 36:5:849–857.
[Google Scholar]
-
Kumar S, Bhalla A, Sharma N, Dhibar DP, Kumari S, Varma S. Clinical Biochemical Characteristic and Hospital Outcome of Acute Intermittent Porphyria Patients: A Descriptive Study from North India. Ann Indian Acad Neurol. 2017 Jul-Sep; 20:3:263–269.
[Google Scholar]
-
Sachdev R, Haldiya KR, Dixit AK. Acute intermittent porphyria in a Kumhar community of Western Rajasthan. J Assoc Physicians India. 2005; 53:101–104.
[Google Scholar]
-
Barreda-Sánchez M, Buendía-Martínez J, Glover-López G, Carazo-Díaz C, Ballesta-Martínez MJ, López-González V, et al., High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor. Orphanet J Rare Dis. 2019; 14:59.
[Google Scholar]
-
Chen B, Solis-Villa C, Hakenberg J, Qiao W, Srinivasan RR, Yasuda M, et al., Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. Hum Mutat. 2016 Nov; 37:11:1215–1222.
[Google Scholar]
-
[Google Scholar]
-
Zerbino DR, Achuthan P, Akanni W, Amode MR, Barrell D, Bhai J, et al.,
Ensembl 2018. Nucleic Acids Res
2018; 46:D1:D754–761.
-
Bustad HJ, Vorland M, Rønneseth E, Sandberg S, Martinez A, Toska K. Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants K132N and V215E with differen phenotypic association with acute intermittent porphyria. Biosci Rep. 2013 Aug 8; 33:4:e00056.
[Google Scholar]
-
-
Gázquez Sisteré I, Luján Mavila K, Chordá Ribelles J, Touzón López C. La porfiria aguda intermitente un problem diagnóstico [Acute intermittent porphyria: a diagnostic dilemma]. Gastroenterol Hepatol. 2010; 33:436–439.
[Google Scholar]
-
Shen FC, Hsieh CH, Huang CR, Lui CC, Tai WC, Chuang YC. Acute intermittent porphyria presenting as acute pancreatitis and posterior reversible encephalopathy syndrome. Acta Neurol Taiwan. 2008; 17:177–183.
[Google Scholar]
-
Zhao B, Wei Q, Wang Y, Chen Y, Shang H. Posterior reversible encephalopathy syndrome in acute intermittent porphyria. Pediatr Neurol. 2014; 51:457–460.
[Google Scholar]
-
Shahzad MA, Mukhtar M, Ahmed A, Ullah W, Saeed R, Hamid M. Gitelman syndrome: A rare cause of seizure disorder and a systematic review. Case Rep Med. 2019; 2019:4204907.
[Google Scholar]
-
Cardenas JL, Guerrero C. Acute intermittent porphyria: general aspects with focus on pain. Curr Med Res Opin. 2018; 34:1309–1315.
[Google Scholar]
-
Balwani M, Sardh E, Ventura P, Peiró PA, Rees DC, Stölzel U. Phase 3 Trial of RNAi therapeutic givosiran for acute intermittent porphyria. N Engl J Med. 2020; 382:2289–2301.
[Google Scholar]
-
-
Syed YY. Givosiran: A review in Acute hepatic porphyria. Drugs. 2021; 81:841–848.
[Google Scholar]
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