Copper coproporphyrin excretion in familial coproporphyria.
نویسندگان
چکیده
Analysis of stool specimens from a patient with familial coproporphyria by high-performance liquid chromatography revealed that 112 microgram per gram of dry feces (14% of the total porphyrin present) was copper coproporphyrin. Examination of stool specimens from other patients with this disease confirmed the presence of significant amounts of both copper coproporphyrin and coproporphyrin. Further investigation showed that the copper coproporphyrin was probably formed by a nonenzymic incorporation of copper by the coproporphyrin in either the bile or feces.
منابع مشابه
Case Reports Hereditary Coproporphyria Associated with the Q306X Mutation in the Coproporphyrin Oxidase Gene Presenting with Acute Ataxia
Background: Hereditary coproporphyria (HCPO) is a low-penetrance, autosomal dominant, acute hepatic porphyria characterized by the overproduction and excretion of coproporphyrin. The most common neurological manifestations of this entity include peripheral, predominantly motor dysfunction, and central nervous system dysfunction. Ataxia associated with HCPO has not been reported previously. The ...
متن کاملHereditary Coproporphyria Associated with the Q306X Mutation in the Coproporphyrin Oxidase Gene Presenting with Acute Ataxia
BACKGROUND Hereditary coproporphyria (HCPO) is a low-penetrance, autosomal dominant, acute hepatic porphyria characterized by the overproduction and excretion of coproporphyrin. The most common neurological manifestations of this entity include peripheral, predominantly motor dysfunction, and central nervous system dysfunction. Ataxia associated with HCPO has not been reported previously. The a...
متن کاملExcretion pattern of faecal coproporphyrin isomers I-IV in human porphyrias.
The relative proportions of the four coproporphyrin isomers I-IV were analysed in faeces of 20 healthy subjects and 60 patients suffering from one of the seven common types of hepatic or erythropoietic hereditary porphyrias. A newly developed, reliable method for sample preparation was applied, using reversed-phase thin layer chromatography for the isolation of naturally occurring coproporphyri...
متن کاملHarderoporphyria : A Variant Hereditary Coproporphyria
a high level of coproporphyrin in their urine and feces; the pattern of fecal porphyrin excretion was atypical for hereditary coproporphyria because the major porphyrin was harderoporphyrin (>60%; normal value is <20%). The lymphocyte coproporphyrinogen III oxidase activity of each patient was 10% of control values, which suggests a homozygous state. Both parents showed only mild abnormalities ...
متن کاملFecal coproporphyrin isomers in hereditary coproporphyria.
To see whether the fecal coproporphyrin III:coproporphyrin I (CIII:CI) ratio (determined by HPLC) would be suitable for screening patients at risk of hereditary coproporphyria (HC), we compared such ratios with the lymphocyte coproporphyrinogen oxidase (EC 1.3.3.3) activities (COOX) in 38 subjects from one large family and two smaller families with HC. The CIII:CI ratio was normal (less than 1....
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Clinical chemistry
دوره 24 11 شماره
صفحات -
تاریخ انتشار 1978