Nonphysiologic neonatal jaundice – Maternal serum jaundice, also known as Lucey-Driscoll syndrome, is an autosomal recessive metabolic. En bioquímica, una ruta metabólica o vía metabólica es una sucesión de reacciones químicas que conducen de un sustrato inicial a uno o. “Las enfermedades de Jean-Jacques Rousseau”. Revista Aleph (in Gilbert’s syndrome · Crigler–Najjar syndrome · Lucey–Driscoll syndrome. conjugated.

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Acute intermittent porphyria is the second most common form of porphyria porphyria cutanea tarda being the most common. Hereditary coproporphyria Harderoporphyria Variegate porphyria Erythropoietic protoporphyria. Patients that experience frequent attacks can develop chronic neuropathic pain driscpll extremities as well as chronic pain in the gut. Rousseau e la menzogna autobiograficaSchena,enfwrmedad.

Crigler—Najjar syndrome or CNS is a rare inherited disorder affecting the metabolism of bilirubina chemical formed from the breakdown of the heme in red blood cells. UGT1A1 normally catalyzes the conjugation of bilirubin and glucuronic acid within hepatocytes. An Orphanet summary for this disease is currently under development.

An attack of acute intermittent porphyria may be precipitated by one of the “four M’s”: No UDP glucuronosyltransferase 1-A1 enfegmedad can be detected in the liver tissue. Although results for this trial are still undergoing rigorous testing.

The colorless porphobilinogen is changed to the dark colored porphobilin due to oxygen exposure.

Gene mutation located on chromosome 11q Symptoms of AIP may include abdominal painconstipationand muscle weakness. However, without porphobilinogen deaminasea necessary cytoplasmic enzyme, heme synthesis cannot finish, and the metabolite porphobilinogen accumulates in the cytoplasm. Acute efnermedad porphyria Porphobilinogen. Gilbert’s syndrome Crigler—Najjar syndrome Lucey—Driscoll syndrome. Revista Aleph in Spanish. Hereditary coproporphyria Harderoporphyria Variegate porphyria Erythropoietic protoporphyria.


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The American Porphyria Foundation has information regarding the quick procurement of the drug. Syndromes affecting the hepatobiliary system Heme metabolism disorders Hepatology Rare syndromes. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. ALAD porphyria Acute intermittent porphyria.

Orphanet: Hiperbilirrubinemia neonatal transitoria

Dubin—Johnson syndrome Rotor syndrome. Treatment can be problematic: Urinary symptoms such as painful urinationurinary retentionurinary incontinenceor dark urine have also been known to occur.

Prematurity results in higher levels. Check this box if you wish to receive a copy of your message. The disorder results in a form of non hemolytic jaundicewhich results in high levels of unconjugated bilirubin and often leads to brain damage in infants.

Pain is extremely severe and almost always requires the use of opiates to reduce it to tolerable levels.

Before the availability of phototherapythese children died of kernicterus bilirubin encephalopathy or survived until early adulthood with clear neurological impairment. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Signs and symptoms of AIP can be variable.

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Signs that suggest dysfunction of the autonomic nervous system may be evident including an abnormally fast heart ratehigh blood pressuresweatingrestlessness, and tremor. From Wikipedia, the free encyclopedia. A smaller percentage of patients type IB have mutations limited to the bilirubin-specific A1 exon; their conjugation defect is mostly restricted to bilirubin itself.


The homozygous Gunn ratwhich lacks the enzyme uridine diphosphate glucuronyltransferase UDPGTis an animal model for the study of Crigler—Najjar syndrome. In this condition, there is lucy release of red urine and no red discoloration in the patient’s skin due to the lack of porphyrin ring synthesis all together during acute attacks. It enfermedaf not be mistaken that the enzyme porphobilinogen deaminase could also be called hydroxymethylbilane synthase.

Drug-induced cases typically regress after discontinuation of the substance. Gilbert’s syndrome Crigler—Najjar syndrome Lucey—Driscoll syndrome. Health care resources for this disease Expert centres 69 Diagnostic tests 7 Patient organisations 22 Orphan drug s 0. Urine of AIP sufferers may turn dark purple when exposed to ultraviolet light and air after 24 hours of exposure.

Acute intermittent porphyria AIP is a rare autosomal dominant [1] metabolic disorder affecting the production of hemethe oxygen-binding prosthetic group of hemoglobin.

Crigler–Najjar syndrome

Other search option s Alphabetical list. Seizures often accompany this disease.

Subsequent treatment with anti-psychotics increases the accumulation of porphobilinogen, thus aggravating the disease enough enfermeedad it may prove fatal.

Dubin—Johnson syndrome Rotor syndrome. Disorders of heme biosynthesis: This is a very rare disease estimated at 0. It is caused by abnormalities in the gene coding for uridine diphosphogluconurate glucuronosyltransferase UGT1A1.