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Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae. 2018

Kara Dunn, and Brad Pasternak, and Judith R Kelsen, and Kathleen E Sullivan, and Noor Dawany, and Benjamin L Wright
Phoenix Children's Hospital, Phoenix, Arizona.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D008798 Mevalonic Acid A dihydroxy monocarboxylic acid and precursor in the biosynthetic pathway known as the mevalonate pathway, which produces terpenes and steroids that are vital for diverse cellular functions. Mevalonate,Acid, Mevalonic
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D012003 Rectal Fistula An abnormal anatomical passage connecting the RECTUM to the outside, with an orifice at the site of drainage. Anal Fistula,Fistula, Rectal
D012007 Rectum The distal segment of the LARGE INTESTINE, between the SIGMOID COLON and the ANAL CANAL. Rectums
D012074 Remission Induction Therapeutic act or process that initiates a response to a complete or partial remission level. Induction of Remission,Induction, Remission,Inductions, Remission,Remission Inductions
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies

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