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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International Classification of Diseases Revolvy Brain revolvybrain.
Lucey-driscoll Syndrome (disorder): Disease Bioinformatics
This article drisclol a list of referencesrelated reading or external linksbut its sources remain unclear because it lacks inline citations. Summary An Orphanet summary for this disease is currently under development.
Info Lucey Driscoll syndrome. Crigler—Najjar syndrome topic Crigler—Najjar syndrome or CNS is a rare inherited disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of the heme in red blood cells. The same condition may be present in unusually high frequency in Yemenite Jews Sheba, Member feedback about List of diseases L: Other causes of hyperbilirubinemia should be excluded.
Rapid Recognition and Perioperative Implications. Resources – Lucey Driscoll drisccoll Not supplied. Transient nonhemolytic unconjugated hyperbilirubinemia is observed in breast-fed but not bottle-fed babies of mothers whose breast milk contains pregnane-3 alpha drisfoll beta -diol that competitively inhibits hepatic glucuronyltransferase activity in vitro.
Cause It is caused by abnormalities in the gene coding drisccoll uridine diphosphogluconurate glucuronosyltransferase UGT1A1. Serum bilirubin levels normalized by the time the infants were 4 months old. Lucey—Driscoll syndrome is an autosomal recessive metabolic disorder affecting enzymes involved in bilirubin metabolism. Unconjugated hyperbilirubinemia, which is more severe than the form observed in breast milk jaundice, is present.
This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. Member feedback about Crigler—Najjar syndrome: Inherited error of bilirubin metabolism in which bilirubin cannot be converted into water-soluble bilirubin glucuronide because of a defect of hepatic glucuronyl transferase.
Orphanet: Transient familial neonatal hyperbilirubinemia
A rare condition characterized by severe jaundice at birth and caused by the presence of a gestational discoll that passes from the mother to the infant across the placenta but eventually disappears after birth. Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: Member feedback about List of syndromes: Rare; 24 cases reported. View All Subscription Options. Publications, links to patient conferences and webinars.
Prolonged neonatal unconjugated hyperbilirubinemia associated with breast feeding and a steroid, pregnane-3 alpha20 beta -diol, in maternal milk that inhibits glucuronide vriscoll in vitro. Arias and Gartner ; Newman and Gross Usually all siblings are affected. Jaundice occurring in breast-fed neonate around the fourth to seventh day of life, persisting beyond physiologic jaundice, and with no other identifiable cause, probably resulting from a milk component that inhibits uridine diphosphoglucuronic acid UDPGA glucuronyl transferase, thus resulting in a prolonged unconjugated hyperbilirubinemia.
You can help by adding to it. Hereditary coproporphyria Luceh Variegate porphyria Erythropoietic protoporphyria. Each of the remaining nine 5′ exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. The inhibitor was present in these mothers in concentrations 4 to 10 times that in other pregnant mothers.
It is defined as a luucey unconjugated hyperbilirubinemia resulting from a mutation in the promoter of the UDP-glucuronosyltransferase gene allelic to the mutation for Crigler-Najjar syndrome type I.
Crigler-Najjar syndrome type II is less severe than type I. The familial incidence was Videos Currently no videos. Otherwise it is lkcey from view.
Unconjugated hyperbilirubinemia resulting in jaundice usually presenting on the third to fifth day of life and persisting for 3 weeks. Hyperbilirubinemia in breast-fed infants.
Lucey–Driscoll syndrome – Wikipedia
Diagnosis Type I This is a very r The mothers do not show hyperbilirubinemia, probably because of a large functional reserve. Clinical Synopsis Toggle Dropdown. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.
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List of ICD-9 codes — Member feedback about List of ICD-9 codes — Related Articles Inherited disorders of bilirubin clearance.