Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center

Porphyria is a group of eight metabolic disorders characterized by defects in heme biosynthesis. The presentation of porphyria is highly variable, and the symptoms are nonspecific, which accounts in part for delays in establishing a diagnosis. In this study, we report the characteristics of 36 Chinese acute porphyria patients. Most of them were female (33/36), and the median age was 25.3 years (range 18–45 years). The most frequent presenting symptom was abdominal pain (32/36). Hyponatremia was the most common electrolyte abnormality (29/36), and the serum sodium concentration was significantly negatively correlated with convulsion (p=0.00). Genetic testing provided a precise diagnosis of the patients. Genetic analysis of the porphobilinogen deaminase (PBGD) gene was performed for 10 subjects. Of them, 9 were found to harbor a mutation in the PBGD gene, proving a diagnosis of acute intermittent porphyria, and, in 1 case, a novel Cys209Term mutation was found.

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Variant acute intermittent porphyria in a child

Clinical Chemistry ◽

10.1093/clinchem/36.5.812 ◽

1990 ◽

Vol 36 (5) ◽

pp. 812-814 ◽

Cited By ~ 2

Author(s):

N R Badcock ◽

G D Zoanetti ◽

D A O'Reilly ◽

E F Robertson

Keyword(s):

Family History ◽

Parenteral Nutrition ◽

Enzyme Activities ◽

Clinical Symptoms ◽

Acute Intermittent Porphyria ◽

Normal Activity ◽

Porphobilinogen Deaminase ◽

Acute Porphyria ◽

Protoporphyrinogen Oxidase ◽

History Of

Abstract A child who was grossly malnourished and who showed increased excretion of porphyrin and porphyrin precursor had normal activity of erythrocyte porphobilinogen deaminase (EC 4.3.1.8) and leukocyte protoporphyrinogen oxidase (EC 1.3.3.4). Clinical symptoms, coincident with the excretion of rose-colored urine, were consistent with the diagnosis of an acute porphyria. The disease resolved spontaneously after the withdrawal of carbamazepine and sodium valproate and the commencement of parenteral nutrition with subsequent carbohydrate loading. In addition to normal concentrations of enzyme activities, the patient is unusual in presenting before puberty and in having no family history of porphyria.

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Acute Intermittent Porphyria: A Report of 3 Cases with Neuropathy

Case Reports in Neurology ◽

10.1159/000496420 ◽

2019 ◽

Vol 11 (1) ◽

pp. 32-36

Author(s):

Mohammed Alqwaifly ◽

Vera Bril ◽

Dubravka Dodig

Keyword(s):

Biosynthetic Pathway ◽

Metabolic Disorders ◽

Case Series ◽

Acute Intermittent Porphyria ◽

Genetic Mutation ◽

Nerve Conduction Studies ◽

Porphobilinogen Deaminase ◽

Motor Neuropathy ◽

Clinical Presentations ◽

Associated Symptoms

The porphyrias are metabolic disorders due to a defect in the heme biosynthetic pathway. Patients have diverse clinical presentations with neuropathy being frequent in acute intermittent porphyria (AIP). Associated symptoms are abdominal pain and seizures. Three patients presenting with neuropathy were later diagnosed with AIP on the basis of clinical features, erythrocyte porphobilinogen deaminase activity, neuropathic patterns, and nerve conduction studies. Testing for the HMBS genetic mutation confirmed the diagnosis of AIP in 1 patient. The findings from this case series confirm that porphyric neuropathy in AIP is a predominantly motor neuropathy with differing neuropathic presentations ranging from focal motor neuropathy to quadriplegia and respiratory failure.

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