Acute intermittent porphyria in childhood. A neglected diagnosis?

Barclay, Nancy

doi:10.1136/adc.49.5.404

Cited by 19 publications

(8 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Manifestations of the acute hereditary forms of porphyria are rare in child- hood. Clinical attacks of acute intermittent porphyria in children have been described but are exceptional (23). The Symptoms and signs of variegate porphyria Start after puberty.…”

Section: Discussionmentioning

confidence: 99%

Aminolaevulinate Dehydratase Porphyria in Infancy. A Clinical and Biochemical Study

Thunell¹,

Holmberg²,

Lundgren³

1987

Clinical Chemistry and Laboratory Medicine

View full text Add to dashboard Cite

Summary: Homozygous deficiency of aminolaevulinate dehydratase (porphobilinogen synthase, EC 4.2.1.24) was diagnosed in a small child. The clinical presentation was unique since severe Symptoms were already present in the neonatal period. The patient, a boy, now three-years old, had recurrent attacks of pain, vomiting, hyponatraemia and Symptoms of polyneuropathy engaging motor functions including respiration. The clinical course of the disease from birth on is related, äs are the results of various attempts at therapy. The patient excreted large amounts of 5-aminolaevulinic acid and coproporphyrin and minor amounts of porphobilinogen in the urine. Faecal excretion of coproporphyrin and harderoporphyrin was increased äs was erythrocyte porphyrin concentration. Diagnosis was established by the finding that erythrocyte aminolaevulinate dehydratase activity was less than 5 per cent of normal in the patient and between 26 and 51 per cent of normal in both the parents, the grandfathers and a sibling. The activity of the enzyme could not be restored by the addition of dithiothreitol (10~3 mol/1) alone, or in combination with zinc or manganese in varying concentrations. The enzyme K m did not differ between affected and nonaffected members of the family.

show abstract

Section: Discussionmentioning

confidence: 99%

Aminolaevulinate Dehydratase Porphyria in Infancy. A Clinical and Biochemical Study

Thunell¹,

Holmberg²,

Lundgren³

1987

Clinical Chemistry and Laboratory Medicine

View full text Add to dashboard Cite

show abstract

“…Barclay (1974) recently reviewed the literature on acute intermittent porphyria in childhood and found only 37 cases, though few clinical details are given. The incidence of fits complicating an acute attack of porphyria in adults is 15% (Goldberg and Rimington, 1962), but the association of chronic epilepsy with porphyria is not well documented.…”

Section: Discussionmentioning

confidence: 99%

Hereditary coproporphyria and epilepsy.

Houston¹,

Brodie²,

Thompson³

et al. 1977

Archives of Disease in Childhood

View full text Add to dashboard Cite

“…It was believed to be virtually absent before puberty [11]. However, there have been reports of AIP in the pediatric literature [12][13][14] that suggest that it may not be as rare as previously thought but that the diagnosis is simply missed. Generally, an attack presents with acute abdominal colic for which patients are frequently surgically explored.…”

Section: Classificationmentioning

confidence: 99%

Porphyria: Reexamination of Psychiatric Implications

Burgoyne¹,

Swartz²,

Ananth³

1995

Psychother Psychosom

View full text Add to dashboard Cite

Acute intermittent porphyria mimics a variety of commonly occurring disorders and thus poses a diagnostic quagmire. Psychiatric manifestations include hysteria, anxiety, depression, phobias, psychosis, organic disorders, agitation, delirium, and altered consciousness ranging from somnolence to coma. Some patients develop psychosis similar to schizophrenia. Psychiatric hospitals have a disproportionate number of patients with this disorder as only difficult and resistant patients accumulate there. Presence of photosensitive porphyrins in the urine is diagnostic. When porphyrins are absent, excess of alpha aminolevulinic acid and porphobilinogen are present in the urine. The definitive test is to measure monopyrrole porphobilinogen deaminase in RBCs. This diagnosis should be entertained in the following situations: (a) unexplained leukocytosis; (b) unexplained neuropathy; (c) etiologically obscure neurosis or psychosis; (d) ‘idiopathic’ seizure disorder; (e) unexplained abdominal pain; (f) conversion hysteria, and (g) susceptibility to stress. Porphyria is important in psychiatry as it may present with only psychiatric symptoms; it may masquerade as a psychosis and the patient may be treated as a schizophrenic person for years; the only manifestation may be histrionic personality disorder which may not receive much attention. Diagnosis is based on a high index of suspicion and appropriate investigation. Various psychotropic drugs exacerbate acute attacks. While it is important not to use the unsafe drugs in porphyric patients, it is also imperative to look for this diagnosis in cases where these drugs produce unprecedented drug reactions.

show abstract

Acute intermittent porphyria in childhood. A neglected diagnosis?

Cited by 19 publications

References 10 publications

Aminolaevulinate Dehydratase Porphyria in Infancy. A Clinical and Biochemical Study

Aminolaevulinate Dehydratase Porphyria in Infancy. A Clinical and Biochemical Study

Hereditary coproporphyria and epilepsy.

Porphyria: Reexamination of Psychiatric Implications

Contact Info

Product

Resources

About