James Pitt

Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia.

Sharmila Kiss, Joy Yaplito Lee, James Pitt, Duncan MacGregor, Jane Wallace, Melanie Marty, Natasha J Brown

Journal article  |  2020  |  JIMD Rep

Sitosterolemia is an extremely rare autosomal recessive disease caused by mutations in either ABCG5 or ABCG8, which encode for a s..

Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.

Joy Yaplito-Lee, Gautham Pai, Winita Hardikar, Kai M Hong, James Pitt, Justine Marum, David J Amor

Journal article  |  2020  |  JIMD Rep

Lathosterolosis is a rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by defects in the SC5D (sterol C5..

ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder

Mariella T Simon, Shaya S Eftekharian, Sacha Ferdinandusse, Sha Tang, Take Naseri, Muagututi'a Sefuiva Reupena, Stephen T McGarvey, Ryan L Minster, Daniel E Weeks, Daniel D Nguyen, Sansan Lee, Katarzyna A Ellsworth, Frederic M Vaz, David Dimmock, James Pitt, Jose E Abdenur

Journal article  |  2020  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in the short-chain enoyl-CoA hydratase (SCEH) gene, ECHS1, cause a rare autosomal recessive disorder of valine catabolis..

Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet.

JE Abdenur, M Sowa, M Simon, M Steenari, J Skaar, S Eftekharian, R Chang, S Ferdinandusse, J Pitt

Journal article  |  2020  |  Mol Genet Metab Rep

Small intestinal bacterial overgrowth in children with intestinal failure on home parenteral nutrition

Kathleen H McGrath, James Pitt, Julie E Bines

Journal article  |  2019  |  JGH OPEN

Background and Aim: Children with intestinal failure (IF) have abnormal intestinal anatomy, secretion, or motility, which impairs ..

Metabolite diagnosis of primary hyperoxaluria type 3

Lawrence Greed, Frank Willis, Lilian Johnstone, Sharon Teo, Ruth Belostotsky, Yaacov Frishberg, James Pitt

Journal article  |  2018  |  PEDIATRIC NEPHROLOGY

BACKGROUND: Primary hyperoxaluria type 3 (PH3) is a recently described cause of childhood renal calculi. It results from mutations..

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

David Coman, Lisenka ELM Vissers, Lisa G Riley, Michael P Kwint, Roxanna Hauck, Janet Koster, Sinje Geuer, Sarah Hopkins, Barbra Hallinan, Larry Sweetman, Udo FH Engelke, T Andrew Burrow, John Cardinal, James McGill, Anita Inwood, Christine Gurnsey, Hans R Waterham, John Christodoulou, Ron A Wevers, James Pitt

Journal article  |  2018  |  AMERICAN JOURNAL OF HUMAN GENETICS

Mendelian disorders of cholesterol biosynthesis typically result in multi-system clinical phenotypes, underlining the importance o..

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome

Ian R Woodcock, Manoj P Menezes, Lee Coleman, Joy Yaplito-Lee, Heidi Peters, Susan M White, Rachel Stapleton, Dean G Phelan, Belinda Chong, Sebastian Lunke, Zornitza Stark, James Pitt, Monique M Ryan, Colin Robertson, Eppie M Yiu

Journal article  |  2018  |  SEMINARS IN PEDIATRIC NEUROLOGY

Brown-Vialetto-van Laere syndrome is characterized by a progressive sensorimotor neuropathy, optic atrophy, hearing loss, bulbar d..

Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.

Patricia E Fitzsimons, Charlotte L Alston, Penelope E Bonnen, Joanne Hughes, Ellen Crushell, Michael T Geraghty, Martine Tetreault, Peter O'Reilly, Eilish Twomey, Yusra Sheikh, Richard Walsh, Hans R Waterham, Sacha Ferdinandusse, Ronald JA Wanders, Robert W Taylor, James J Pitt, Philip D Mayne

Journal article  |  2018  |  Am J Med Genet A

Short-chain enoyl-CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in t..

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates

Sarah E Donoghue, James J Pitt, Avihu Boneh, Susan M White

Journal article  |  2018  |  JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the DHCR7 gene that result..