Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea
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DOI: 10.1038/s10038-018-0467-2
Abstract: Argininosuccinic aciduria (ASA), which is considered to be the second most common urea cycle disorder (UCD), is caused by an argininosuccinate lyase deficiency and is biochemically characterized by elevation of argininosuccinic acid and arginine deficiency.… read more here.
Keywords: prevalence; lyase deficiency; urea cycle; deficiency ... See more keywords
A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review.
Sign Up to like & getrecommendations! Published in 2023 at "Blood pressure"
DOI: 10.1080/08037051.2023.2195008
Abstract: Aim: 17 α-hydroxylase/17,20-lyase deficiency (17-OHD) is an extremely rare autosomal recessive disorder that typically causes hypertension, hypokalaemia, primary amenorrhoea, and the absence of secondary sex characteristics in 46,XX individuals. Partial 17-OHD is even rarer than… read more here.
Keywords: hydroxylase lyase; hypertension hypokalaemia; cyp17a1 mutation; primary amenorrhoea ... See more keywords
A new compound heterozygous mutation in a female with 17α-hydroxylase/17,20-lyase deficiency, slipped capital femoral epiphysis, and adrenal myelolipoma
Sign Up to like & getrecommendations! Published in 2019 at "Gynecological Endocrinology"
DOI: 10.1080/09513590.2018.1540576
Abstract: Abstract 17α-Hydroxylase/17,20-lyase deficiency (17-OHD) is a rare disease caused by mutations of the CYP17A1 gene. Slipped capital femoral epiphysis (SCFE) rarely occurs in adults. There are occasional reports of adrenal myelolipoma (AML) in 17-OHD. A… read more here.
Keywords: hydroxylase lyase; lyase deficiency; slipped capital; femoral epiphysis ... See more keywords
A rare case of 17α-hydroxylase/17, 20-lyase deficiency: Clinical and genetic findings and follow-up outcomes
Sign Up to like & getrecommendations! Published in 2022 at "Women's Health"
DOI: 10.1177/17455057221122597
Abstract: Here, we reported a case of a 16-year-old Chinese female patient (46, XX) diagnosed as 17α-hydroxylase/17, 20-lyase deficiency (17-OHD) in June 2018 and over 3 years follow-up outcomes; 17-OHD is a rare form of congenital adrenal… read more here.
Keywords: hydroxylase lyase; follow outcomes; case; lyase deficiency ... See more keywords
17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the Endocrine Society"
DOI: 10.1210/jendso/bvac011
Abstract: Abstract Context There are more than 100 pathogenic variants in CYP17A1 that have been identified in patients with 17α-hydroxylase/17,20-lyase deficiency (17OHD). Objective We aimed to describe 46,XY patients with 17OHD from our center and review… read more here.
Keywords: hydroxylase lyase; review literature; deficiency; lyase deficiency ... See more keywords
A Novel Compound Heterozygous CYP17A1 Variant Causes 17α-Hydroxylase/17, 20-Lyase Deficiency
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DOI: 10.3389/fgene.2019.00996
Abstract: Background: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive diseases characterized by enzyme deficiencies, within steroid hormone anabolism, which lead to disorders in cortisol synthesis. The 17α-hydroxylase/17,20-lyase deficiency (17-OHD) is an uncommon form… read more here.
Keywords: hydroxylase lyase; novel compound; lyase deficiency; cyp17a1 ... See more keywords
Clinical and Genetic Analysis of a Patient With Coexisting 17a-Hydroxylase/17,20-Lyase Deficiency and Moyamoya Disease
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.845016
Abstract: 17a-Hydroxylase/17,20-lyase deficiency (17OHD) is caused by pathogenic mutations in CYP17A1. Female patients present with hypertension, hypokalemia, and sexual infantilism while males present with sex development disorder. Moyamoya disease (MMD) is a chronic cerebrovascular disease that… read more here.
Keywords: hydroxylase lyase; disease; lyase deficiency; 17a hydroxylase ... See more keywords
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients
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DOI: 10.3389/fgene.2022.880464
Abstract: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is a rare inborn error of leucine degradation and ketone body synthesis, caused by homozygous or compound heterozygous disease-causing variants in HMGCL. To understand the natural history of this… read more here.
Keywords: hmg coa; life; lyase deficiency; lyase ... See more keywords