LUCEY-DRISCOLL SYNDROME Mutations in the same gene cause Crigler- Najjar syndrome types I and II (, ) and Gilbert syndrome (). Disease name; Orpha number Synonym(s). Lucey-Driscoll syndrome An Orphanet summary for this disease is currently under development. However. Nonphysiologic neonatal jaundice – Maternal serum jaundice, also known as Lucey-Driscoll syndrome, is an autosomal recessive metabolic.
|Published (Last):||26 November 2018|
|PDF File Size:||18.81 Mb|
|ePub File Size:||3.56 Mb|
|Price:||Free* [*Free Regsitration Required]|
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. Hereditary coproporphyria Harderoporphyria Variegate porphyria Erythropoietic protoporphyria.
Clinical Trials No clinical trial found. It is luecy from breast feeding-associated jaundice breast-fed infants have higher bilirubin levels than formula-fed ones. If untreated, this condition can cause seizures, neurologic problems kernicterus and even death.
Lucey Driscoll syndrome
The disorder is inherited in an autosomal recessive manner. An Orphanet summary for this disease is currently under development. Phototherapy is used to treat the hyperbilirubinemia. You can also find results for a single author or contributor. Prolonged neonatal unconjugated hyperbilirubinemia associated with breast feeding and a steroid, pregnane-3 alpha20 driscopl -diol, in ulcey milk that inhibits glucuronide formation in vitro.
Transient nonhemolytic unconjugated hyperbilirubinemia is observed in breast-fed but not bottle-fed babies of mothers whose breast milk contains pregnane-3 alpha ,20 beta -diol that competitively inhibits hepatic glucuronyltransferase activity in vitro.
Expert curators review the literature and organize it to facilitate your work. This problem is most often found immediately after delivery.
There are other causes for jaundice in the newborn that are easily treated. Heme metabolism disorders E80 Publications, links to patient conferences and webinars. Syndromes Revolvy Brain revolvybrain. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
Sign in via Shibboleth.
Three of the 16 died of kernicterus, and one was left with quadriplegic cerebral palsy. These two types, along with Gilbert’s syndrome, Dubin—Johnson syndrome, and Rotor syndrome, make up the five known hereditary defects in bilirubin metabolism.
Pediatrics Revolvy Brain revolvybrain. Another example is mental retardation in the offspring of women with phenylketonuria Mabry et al.
Lucey Driscoll syndrome — CheckOrphan
Search within a content type, and even narrow to one or more resources. Lists of diseases Revolvy Brain revolvybrain. Hyperbilirubinemia – PS – 7 Entries. We need long-term secure funding to provide you the information that you need at your fingertips.
About MyAccess If your institution subscribes to this resource, and you don’t have a MyAccess Profile, please contact your library’s reference desk for driscll on how to gain access to this resource from off-campus. Transient familial neonatal hyperbilirubinemia. Phenotypic Series Toggle Dropdown. Member feedback about UDP glucuronosyltransferase 1 family, polypeptide A1: Genetic counseling can help families understand the condition, its risks of recurring, and how to care for the person.
Babies who are treated can have a good outcome. Please enter User Name. Please enter Password Forgot Username? The medical information driscolo this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.
A substance, probably a metabolite of gestational hormones inhibitor of uridine diphosphate [UDP]-glucuronosyltransferase activitythat inhibits bilirubin conjugation is responsible for the disease. Please consider making a donation now and again in the future. Member feedback about Lucey—Driscoll syndrome: Support Organizations Support organizations can provide help and guidance in areas such as peer matching, education and training, and therapy and counseling.
Contributions to CheckOrphan in the United States and Switzerland are tax-exempt to the extent provided by law. Inherited error of bilirubin metabolism in which bilirubin cannot be converted into water-soluble bilirubin glucuronide because of a defect of hepatic glucuronyl transferase. Health care resources for this disease Expert centres 69 Diagnostic tests 7 Patient organisations 22 Orphan drug s 0.
Hyperbilirubinemia, familial transient neonatal. Otherwise it is hidden from view. This page gathers quality information from trusted sources. Please help to improve this article by introducing more precise citations.