Case Of Acute Intermittent Porphyria Research Articles

Acute Intermittent Porphyria in a Child with a Note on the Glycine Loading Test

A case of acute intermittent porphyria in a 6-year-old boy is described. Screening of urine specimens from his family showed elevated ALA and PBG levels in a 12-year-old brother. Administration of glycine (0.4 gm/kg) to the patient resulted in increased urinary output of ALA and PBG. Coproporphyrin appeared in the urine of the patient and one brother after glycine. Normal results were obtained in another brother and two control children.

Urinary porphobilinogen. Results of screening 2,500 psychiatric patients.

A screening procedure for porphobilinogenuria was instituted because there are 4 reasons to expect a higher rate of hepatic porphyria among psychiatric patients than is generally found in other patients. First, acute intermittent porphyria is so closely associated with psychiatric disorder that Roth¹claimed "porphyria occurs with special frequency, if not exclusively, amongst people with severe neurotic personality disorders. It is probable that the psychoneurosis plays an important part in the pathogenesis of the disease and in determining the time of onset of the acute attack." Case reports²show the connection between "mental stress" and precipitation of an attack of acute intermittent porphyria. If such a correlation between psychiatric disorders and acute intermittent porphyria really exists, then one can expect that an even larger proportion of the cases of acute intermittent porphyria will be found in the population of a psychiatric

Lead poisoning and porphyria

A review of the literature revealed only a single documented case of acute intermittent porphyria (AIP) associated with lead poisoning. Another case of plumbism followed by AIP is described, and the relationship between lead poisoning and porphyria is discussed.

Acute intermittent porphyria. A family study.

SummaryA family in which 11 cases of acute intermittent porphyria were found in three consecutive generations has been studied. Evidence is presented that inheritance was by an autosomal dominant gene.The usefulness of the Watson and Schwartz test in such a study and in the diagnosis of acute cases is discussed. It is suggested that it be applied to all relatives of known acute porphyrics.The disease as seen in this family is identical clinically, genetically and biochemically with that found in Sweden, and quite distinct from porphyria cutanea tarda.

Acute intermittent porphyria with convulsions.

This case of acute intermittent porphyria is presented because of the occurrence of convulsive seizures as the only neurological manifestation, as well as several other unusual features. The porphyrins are pigments composed of four pyrrole rings connected by four methane bridges. These pigments are fundamentally related to cellular metabolism and are present in pure or bound form in both plant and animal life. Porphyrins are present in respiratory pigments such as hemoglobin, chlorophyll, cytochrome, and catalase. They occur in the pure state in the central nervous system in man. Porphyrins are excreted in the urine normally in amounts of 5 to 10 mcg. per day. There is an excessive excretion of the pigment in porphyria. An abnormal porphyrin metabolism is the basis of the clinical syndrome of porphyria. There are three types of porphyria: the congenital, the acute intermittent (under consideration here), and the mixed or chronic form. Acute porphyria

Experience with the radioactive vitamin B 12 urinary-excretion test of schilling : Martha E. Smith and Tyra Hutchens, Portland, Oregon.

Assisted reproductive technology is commonly used for women with infertility. We report a case of acute intermittent porphyria associated with in vitro fertilization treatment.A 35-year-old woman with tubal factor infertility presented to our clinic with persistent low abdominal pain and hyponatremia after transvaginal oocyte retrieval. During admission, she experienced a generalized tonic–clonic seizure attacked following by dark brown color urine. Urinary tests showed elevated porphobilinogen, 5-aminolevulinic acid, uroporphyrin, and coproporphyrin, confirming the diagnosis of acute intermittent porphyria. The patient's condition continued to improve after hemin treatment and rehabilitation.Newly onset acute intermittent porphyria during the course of controlled ovarian hyperstimulation for in vitro fertilization is a rare but possible complication. Acute intermittent porphyria should be taken into consideration for persisted unexplained abdominal pain and seriously alerted if accompanied with neurological symptoms. Special tests for acute intermittent porphyria should be taken into consideration for the differential diagnosis of lower abdominal pain after oocyte retrieval.

Acute intermittent porphyria: Report of a case in an infant aged eight months, with discussion of porphyrin metabolism

Summary A case of acute intermittent porphyria in an infant is reported. A brief discussion of the chemistry of the porphyrins and their relationships to human disease is appended.

Acute intermittent porphyria; prompt response to therapy with corticotropin.

THERE have been an increasing number of case reports of the hitherto comparatively been an increasing number of case reports of the hitherto comparatively rare group of disorders included under the general term of porphyria. An excellent review of the recent literature may be found in the publications of Goldman and Kaplan 1 and of Calvy, Jaruszewski, and Carroll. 2 In all the case reports it may be noted that the treatment of this severe disorder has been entirely nonspecific and has been directed primarily toward the correction and amelioration of the distressing symptoms of the disease, particularly pain and fluid imbalance. This report concerns itself with a case of acute intermittent porphyria of the mixed variety, combining the features of the light-sensitive and the acute type. It is noteworthy, as it presents the first recorded case in which dramatically successful therapy was accomplished with adrenocortical hormone. A 39-year-old Englishwoman was first