1/10. Diagnostic traps in porphyria: case report and literature review.porphyrias are metabolic disorders of heme biosynthesis, which encompass a broad range of symptoms and signs, neurologic, cutaneous or mixed. Because of lack of specificity and polymorphous clinical picture, porphyrias can mimic either neuropsychiatric, dermatologic, or gastrointestinal diseases. We present the case of a 58 years old man to whom clinical presentation suspicious of Addison's disease (melanoderma, fatigue, weight loss, intermittent abdominal pain) was the disguise of porphyria cutanea tarda. A general background of porphyrias and differential diagnosis with other forms of hepatic porphyria, as well as other causes of hyperpigmentation, are given. The clinician should be aware of the protean manifestations of porphyrias and include them in clinical judgment in various situations.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
2/10. Hereditary coproporphyria: an imitator of multiple sclerosis.Hereditary coproporphyria can cause both peripheral neuropathy and central nervous system abnormalities. There are several similarities between multiple sclerosis and hereditary coproporphyria that are probably due to the central nervous system dysfunction present in both. This report describes a 62-year-old man with a five-year history of progressive paraparesis initially diagnosed as multiple sclerosis. Supporting evidence for the diagnosis of a demyelinating disease included three oligoclonal bands in the patient's cerebral spinal fluid, a prolonged visual evoked response bilaterally, abnormal sensory evoked potentials, and an area of increased signal in the posterior cervical cord suggestive of demyelination that was demonstrated on magnetic resonance imaging (MRI). Features atypical for multiple sclerosis were hypoactive deep-tendon reflexes, electromyographic evidence of peripheral neuropathy, and severe constipation. Elevated urine porphyrins and decreased levels of coproporphyrinogen oxidase confirmed the correct diagnosis of hereditary coproporphyria. The patient improved after being placed on a high-carbohydrate diet. Although central demyelination is known to occur in patients with porphyria, delayed evoked potentials and MRI abnormalities have not been previously reported.- - - - - - - - - - ranking = 0.0014981612850832keywords = nervous system (Clic here for more details about this article) |
3/10. Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.Acute intermittent porphyria (AIP) is a metabolic disorder characterized by a partial deficiency of the porphobilinogen deaminase (PBGD, EC 4.3.1.8) activity. Previous haplotype analysis combined with genealogical data suggested a common origin of the PBGD gene mutation in the AIP families originating from northern sweden (Lappland), where the highest prevalence of the disease (1 in 1500) is observed. An AIP family from Lappland consisting of two patients and two unaffected subjects was investigated. The genomic dna fragments of the PBGD gene were amplified by polymerase chain reaction (PCR) and directly sequenced, and the sequence of the coding region was compared with the normal sequence to identify the mutation. A base substitution, G to A, in exon 10 of the PBGD gene was identified. The mutation changes the codon for Trp198 to a stop codon (nonsense mutation) and creates a recognition site for the restriction enzyme Nhe I. Screening of 33 Swedish AIP families showed that 15 had this mutation. Genealogical data revealed that 12 of the 15 families were related to the northern family. This finding supports the hypothesis of a "founder effect" of the mutation in the families originating from Lappland. In addition, a method is described for detection of specific sequences in the genome by one-sided PCR using taq polymerase. This method is simple, fast, and economical and can be substituted for hybridization analysis using allele-specific oligonucleotides.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
4/10. liver transplantation for protoporphyria. Evidence for the predominant role of the erythropoietic tissue in protoporphyrin overproduction.Protoporphyria is an inherited disorder of heme biosynthesis characterized by an overproduction of protoporphyrin in the erythropoietic and hepatic tissues, the relative contribution of which in the metabolic disorder has not been directly quantitated. Excess protoporphyrin is eliminated solely by the liver into the bile and feces. We describe the case of a patient with protoporphyria complicated by severe cirrhosis in whom liver transplantation was performed and resulted in almost complete disappearance of skin photosensitivity manifestations and reduction in the level of protoporphyrin in erythrocytes. However, the level of protoporphyrin in feces was not markedly different before and after liver transplantation, which suggests that overproduction of protoporphyrin was unchanged. These findings are consistent with the view that the diseased liver and ensuing low hepatic clearance of protoporphyrin contributed to accumulation of protoporphyrin in the body and that, at least in this patient, the role of the hepatic tissue in the overproduction of protoporphyrin was small in comparison with that of the erythropoietic tissue.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
5/10. Development of porphyria cutanea tarda after treatment with cyclophosphamide.porphyria cutanea tarda, a metabolic disorder of heme biosynthesis, is characterized by cutaneous hyperpigmentation, facial hypertrichosis, dark urine, and a distinctive pattern of excess porphyrin production. Hepatic uroporphyrinogen decarboxylase activity is markedly reduced in patients with this disorder. Although porphyria cutanea tarda may be familial, it is more often sporadic in occurrence, and has been associated with excess alcohol ingestion, estrogen administration, iron overload, and several environmental hepatotoxins. It has also been associated on occasion with malignancy. We report a 46-yr-old woman with ovarian carcinoma who developed porphyria cutanea tarda while undergoing treatment with cisplatin and cyclophosphamide. The temporal course of the porphyrin abnormality suggested that cyclophosphamide was the pathogenic agent, and symptoms regressed after cessation of this drug with continued administration of cisplatin. The pathogenesis of the porphyria is not clear; however, cyclophosphamide is a substrate for cytochrome P450, and may produce metabolites that destroy this protein. The resulting increased turnover of heme might then result in overproduction of porphyrin precursors, resulting in the clinical syndrome. Studies of porphyrin metabolism in patients treated with cyclophosphamide may help to elucidate this possibility.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
6/10. An autopsy case of acute porphyria with a decrease of both uroporphyrinogen I synthetase and ferrochelatase activities.An autopsy case of a 37-year-old woman with acute porphyria is reported. The patient began to complain of severe menstrual pains, and later developed serious peripheral neuropathy and various autonomic nervous symptoms. The autopsy revealed a marked loss and degeneration of axons and myelin sheaths in the peripheral nervous system (PNS), and prominent central chromatolysis of the spinal anterior horn cells. The predominant process of the peripheral neuropathy appeared to be axonal degeneration. Biochemical analysis showed a marked increase of delta-aminolevulinic acid (ALA), porphobilinogen, uroporphyrin, and coproporphyrin in the urine, and an increase of coproporphyrin and protoporphyrin in the stools and blood. In the analysis of the enzymatic activities of the liver and bone narrow, the activity of ALA synthetase (ALA-S) was markedly increased, and the activities of both uroporphyrinogen I synthetase (URO-S) and ferrochelatase were decreased. It was characteristic in this case that the enzymatic abnormalities found in both acute intermittent porphyria (AIP) and variegate porphyria (VP) coexisted. Biochemical analysis of the sciatic nerve showed an increase of ALA-S activity and a decrease of both URO-S and ALA dehydrase activities. This was the first report that indicated the presence of abnormal activities of the heme biosynthetic enzymes in the peripheral nerves of porphyric patients. The possibility was discussed that these enzymatic abnormalities of the heme biosynthesis in the peripheral nerve itself might be strongly related to the pathogenesis of the porphyric neuropathy.- - - - - - - - - - ranking = 0.0007490806425416keywords = nervous system (Clic here for more details about this article) |
7/10. schizophrenia-like psychosis caused by a metabolic disorder.Four patients with an intermittent psychosis closely resembling hallucinogenic drug-induced states were suspected of having a porphyric disease and were investigated for a possible relation between the metabolic dysfunctions of porphyria and the psychotic syndrome. Theoretically the link could be in a disturbance of serine and glycine metabolism. This theory was supported by disturbances in serine and glycine excretion found in all patients during psychotic episodes. In addition, loading with one low oral dose of serine produced psychotic symptoms 5 h later which lasted 3-6 h. One patient reacted to glycine in the same way. These findings suggest that disturbed serine-glycine metabolism may have a key role in certain schizophreniform psychotic syndromes.- - - - - - - - - - ranking = 4keywords = metabolic disorder (Clic here for more details about this article) |
8/10. Hereditary coproporphyria: unusual nervous system involvement in two cases.Two cases of hereditary coproporphyria showed unusual nervous system involvement, one epilepsy with onset in childhood, and the other chronic central and peripheral nervous system damage. The literature is briefly discussed.- - - - - - - - - - ranking = 0.0044944838552496keywords = nervous system (Clic here for more details about this article) |
9/10. Varied psychiatric manifestations of acute intermittent porphyria.Acute Intermittent Porphyria (AIP) is an autosomal dominant metabolic disorder that has various psychiatric manifestations. This is a report of a case who had six brief psychotic episodes of varying nature within a 2-month period. The psychotic manifestations included catatonic stupor, hypomania, and delirium in different episodes. The management aspects of the case have been highlighted.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
10/10. Erythropoietic protoporphyria. Hepatic implications.The terminal stages of erythropoietic protoporphyria are recorded. The observations are related to the site of the fundamental lesion and the nature of the biochemical defect. The possibly ominous prognosis in this usually mild condition is emphasized. Apart from congenital porphyria, the porphyrias do not usually confer severe cutaneous lesions. These diseases present to dermatologists because of moderate photosensitivity and are not usually regarded as a risk to life. Dangerous central nervous system involvement may occur, however, in acute intermittent, variegate and hereditary coproporphyrias, while in acquired symptomatic porphyria severe underlying liver dysfunction may occur. Probably the most common familial photosensitizing porphyria is erythropoietic protoporphyria. Recently some deaths from severe liver involvement have been reported in this disease.- - - - - - - - - - ranking = 0.0007490806425416keywords = nervous system (Clic here for more details about this article) |
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