LUCEY-DRISCOLL SYNDROME. Other entities represented in this entry: BREAST MILK JAUNDICE, INCLUDED. Phenotype-Gene Relationships. Location. Lucey–Driscoll syndrome is an autosomal recessive metabolic disorder affecting enzymes involved in bilirubin metabolism. It is one of several disorders. Lucey-Driscoll syndrome. Prevalence: ; Inheritance: ; Age of onset: Neonatal; ICD P; OMIM: ; UMLS: C; MeSH: ; GARD:
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Orphanet: Transient familial neonatal hyperbilirubinemia
The locus includes thirteen unique alternate first exons followed by drisscoll common exons. CC ]. Four of the alternate first exons are considered pseudogenes.
Member feedback about Crigler—Najjar syndrome: The same condition may be present in unusually high frequency in Yemenite Jews Sheba, These two types, along with Gilbert’s syndrome, Dubin—Johnson syndrome, and Rotor syndrome, make up the five known hereditary defects in bilirubin metabolism. Lucey—Driscoll syndrome topic Lucey—Driscoll syndrome is an autosomal recessive metabolic disorder affecting enzymes involved in bilirubin metabolism.
Clinical Trials No clinical trial found. Another UGT1A1 missense mutation Lucey—Driscoll syndrome is an drisxoll recessive metabolic disorder affecting enzymes involved in bilirubin metabolism. Diagnosis Type I This is a very r Lcuey page was last edited on 19 Augustat When breastfeeding was stopped, the serum bilirubin levels began to decrease in all cases, but when breastfeeding was resumed, the serum bilirubin concentration again became elevated in some infants.
Info Lucey Driscoll syndrome. Cause It is caused by abnormalities in the gene coding for uridine diphosphogluconurate glucuronosyltransferase UGT1A1. View All Subscription Options.
Lucey Driscoll syndrome
Certain conditions originating in the perinatal period — Maternal causes of perinatal morbidity and mortality — Fetus or newborn affected by material conditions which may be unrelated to present pregnancy Retrieved from ” https: CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.
Drugs that interfere with metabolism of bilirubin or that may displace bilirubin from albumin could increase the risk of hyperbilirubinemia or kernicterus. Search Advanced search allows to you precisely focus your query. Conjugated bilirubin is more water soluble and is excreted in bile.
Member feedback about List of diseases L: List of syndromes topic This is an alphabetically-sorted list of medical syndromes. Please enter Password Forgot Username? International Classification of Diseases Revolvy Brain revolvybrain. The ethnic background of these mothers and the presence or absence of consanguinity in their parents would be driscolll interest.
A substance, probably a metabolite of gestational hormones inhibitor of uridine diphosphate [UDP]-glucuronosyltransferase activitythat inhibits bilirubin conjugation is responsible for the disease.
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Lucey–Driscoll syndrome | Revolvy
Excessive jaundice result in kernicterus can cause complications such as brain damage. Member feedback about UDP glucuronosyltransferase 1 family, polypeptide A1: The inhibitor is probably a progestational steroid. Displaying of 3 results. Transient Familial Neonatal Hyperbilirubinemia. Member feedback about Lucey—Driscoll syndrome: However, maximal body weight loss during the neonatal period was the only independent risk factor for the development of neonatal hyperbilirubinemia odds ratio of 1.
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Rare conditions Genetic, autosomal recessive Congenital onset. The common cause is congenital, but it can also be caused by maternal steroids passed on through breast milk to the newborn. Clinical Sports Medicine Collection.
Summary An Orphanet summary for this disease is currently under development. Educational Luucey Added By: Health care resources for this disease Expert centres 69 Diagnostic tests 7 Patient organisations 22 Orphan drug s 0. Please enter User Name Password Error: Dubin—Johnson syndrome Rotor syndrome.