William Nyhan, M.D.


Metabolic and Mitochondrial Medicine


3020 Children's Way
MC 5110
San Diego, CA 92123


Metabolic and Mitochondrial Medicine


Rady Children's Specialists of San Diego

Medical Group / IPA

Rady Children's Specialists

Medical School

Columbia University of Physicians and Surgery


Yale University School of Medicine


Yale University School of Medicine




Hereditary Orotic Aciduria and the Excretion of Orotidine.
Nyhan WL, Gangoiti JA

Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.
Nguyen KV, Nyhan WL

A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease.
Khasnavis T, Reiner G, Sommerfeld B, Nyhan WL, Chipkin R, Jinnah HA

Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper.
Auler K, Broock R, Nyhan WL

Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.
Nguyen KV, Nyhan WL

Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome.
Gertsman I, Gangoiti JA, Nyhan WL, Barshop BA

Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria.
Gertsman I, Barshop BA, Panyard-Davis J, Gangoiti JA, Nyhan WL

Lesch-Nyhan Syndrome
Nyhan WL, O'Neill JP, Jinnah HA, Harris JC, Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A

Quantitative evaluation of the clinical effects of S-adenosylmethionine on mood and behavior in Lesch-Nyhan patients.
Dolcetta D, Parmigiani P, Salmaso L, Bernardelle R, Cesari U, Andrighetto G, Baschirotto G, Nyhan WL, Hladnik U

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Nguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan WL, Puig JG, O'Neill PJ, Jinnah HA, Lesch-Nyhan Disease International Study Group

Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease.
Sharma K, Karl B, Mathew AV, Gangoiti JA, Wassel CL, Saito R, Pu M, Sharma S, You YH, Wang L, Diamond-Stanic M, Lindenmeyer MT, Forsblom C, Wu W, Ix JH, Ideker T, Kopp JB, Nigam SK, Cohen CD, Groop PH, Barshop BA, Natarajan L, Nyhan WL, Naviaux RK

Identification of novel mutations in the human HPRT gene.
Nguyen KV, Nyhan WL

Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members.
Nguyen KV, Naviaux RK, Paik KK, Nakayama T, Nyhan WL

Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA.
Nguyen KV, Naviaux RK, Paik KK, Nyhan WL

Long-term follow-up of four patients affected by HHH syndrome.
Kim SZ, Song WJ, Nyhan WL, Ficicioglu C, Mandell R, Shih VE

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, NIH Intramural Sequencing Center Group, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP

Novel mutations in the human HPRT gene.
Nguyen KV, Naviaux RK, Paik KK, Nyhan WL

Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.
Nguyen KV, Naviaux RK, Patra S, Barshop BA, Nyhan WL

Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.
de Gemmis P, Anesi L, Lorenzetto E, Gioachini I, Fortunati E, Zandonà G, Fanin E, Fairbanks L, Andrighetto G, Parmigiani P, Dolcetta D, Nyhan WL, Hladnik U

Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members.
Sarafoglou K, Grosse-Redlinger K, Boys CJ, Charnas L, Otten N, Broock R, Nyhan WL

Attenuated variants of Lesch-Nyhan disease.
Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG, Lesch-Nyhan Disease International Study Group

The effects of alanine ingestion on metabolic responses to exercise in cyclists.
Klein J, Nyhan WL, Kern M

'Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up'.
Crutchfield SR, Haas RH, Nyhan WL, Gibson KM

Variable expression of HPRT deficiency in 5 members of a family with the same mutation.
Hladnik U, Nyhan WL, Bertelli M

See the full listing of this physician's publications on PubMed, a service of the National Library of Medicine.

PubMed is a third-party website and not affiliated with Rady Children's Hospital-San Diego.