Rani Singh, Ph.D.



Division of Medical Genetics, Nutrition Section

Office: Woodruff Memorial Research Building, 7133

Phone: 404-778-8519

Email: rsingh@emory.edu

Additional Contact Information

Mailing Address:

Emory University - Department of Human Genetics

Woodruff Memorial Research Building
101 Woodruff Circle, 7th Floor, Suite 7130

Atlanta, GA 30322

Additional Websites

Research Interests

Nutritional care is an essential component for the management of genetic disorders. Developing a comprehensive clinical nutrition program both for inpatients and outpatients with inborn errors of metabolism that can serve as a national model of clinical care has been a high priority in my career. My research interests focus on optimizing nutritional treatment of genetic disorders and developing patient education and community outreach strategies through the Emory Genetics Metabolic Nutrition Program. The goals of these clinical research efforts are to develop nutritional treatment recommendations that promote optimal growth and development, and prevent adverse neurological and health consequences in individuals with genetic metabolic disorders.

Current research aimed at advancing treatment strategies include:

  • investigations of the relationship of individual genotypes and nutrition interventions as they relate to treatment outcomes and
  • interventions designed to effectively transition nutrition management from childhood to adulthood. Other critical avenues to assure optimal nutritional care include recent programmatic efforts to bridge nutritional care with expanded Newborn Screening and genetics services provided through national programs.


  • PhD, Nutrition, University of Georgia, 1989
  • Postdoctoral research fellow, Emory University School of Medicine, Department of Pediatrics, Division of Medical Genetics, 1990-1992


Published and Accepted Research Articles in Refereed Journals

Douglas TD, Nucci AM, Berry AM, Henes ST, Singh RH. Large neutral amino acid status in
association with P:T ratio and diet in adult and pediatric patients with phenylketonuria. JIMDReports. 2019; 1–10. https://doi.org/10.1002/jmd2.12076

Jurecki E, Ueda K, Frazier D, Rohr F, Thompson A, Hussa C, Obernolte L, Reineking B, Roberts
AM, Yannicelli S, Osara Y, Stembridge A, Splett P, Singh RH. Nutrition management guideline
for propionic acidemia: An evidence- and consensus-based approach. Molecular Genetics and
Metabolism. April 2019; 126(4):341-354. PMID: 30879957

Brantley KD, Douglas TD, Singh RH. One-year follow-up of B vitamin and Iron status in patients
with phenylketonuria provided tetrahydrobiopterin (BH4). Orphanet Journal of Rare Diseases. 30 October 2018; 13:192 (Epub). https://doi.org/10.1186/s13023-018-0923-2

Burlina A, Tims S, van Spronsen F, Sperl S, Burlina AP, Kuhn M, Knol J, Rakhshandehroo M, Coşkun T, Singh RH, MacDonald A. The potential role of gut microbiota and its modulators in the management of propionic and methylmalonic acidemia. Expert Opinion on Orphan Drugs. 2018 October 17 (Epub). DOI: 10.1080/21678707.2018.1536540

Li H, Zhao L, Singh RH, Ham Jn, Fadoju DO, Bean LJH, Zhang Y, Xu Y, Xu HE, Gambello MJ.
The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is
identified by newborn screening of elevated arginine. Molecular Genetics and Metabolism Reports, 2018 October 2; 17: 46-52. PMID: 30294546

MacDonald A, Singh RH, Rocha JC, van Spronsen FJ. Optimising amino acid absorption:
essential to improve nitrogen balance and metabolic control in phenylketonuria. Nutrition
Research Reviews. 2018 October 4 (Epub). PMID: 30284526

Montoya Parra GA, Singh RH, Cetinyurek-Yavuz A, Kuhn M, MacDonald A. Status of nutrients
important in brain function in phenylketonuria: a systematic review and meta-analysis. Orphanet J Rare Dis, 2018 June 26; 13(1):101. PMID: 29941009

Li H, Byers HM, Diaz-Kuan A, Vos MB, Hall PL, Tortorelli S, Singh R, Wallenstein MB, Allain M,
Dimmock DP, Farrell RM, McCandless S, Gambello MJ. Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas. Mol Genet Metab. 2018 Apr; 123(4):428-432. PMID: 29510902

Campbell H, Singh RH, Hall E, Ali N. Caregiver Quality of Life with Tyrosinemia Type 1. J Genet
Couns. 2018 Jun; 27(3):723-731. (Epub). PMID: 29110168

Chinsky JM, Singh RH, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE,
Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR. Diagnosis and Treatment of Tyrosinemia Type I: A United States and Canadian Consensus Group Review and Recommendations. Genetics in Medicine. 2017 Aug 3 (Epub). PMID: 28771246
Coakley KE, Douglas TD, Goodman M, Ramakrishnan U, Dobrowolski SF, Singh RH.
Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase
deficiency. J Inherit Metab Dis. 2016 May;39(3):363-72. doi: 10.1007/s10545-015-9910-0. Epub 2016 Feb 16.

Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ.  Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.  Orphanet J Rare Dis.  2015 Aug 20;10(1):99.

Osara Y, Coakley KE, Aisthorpe A, Stembridge A, Quirk M, Splett PL, Rohr F, Singh RH. The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders (IMD). J Eval Clin Prac, 2015 Aug 12 (Epub). PMID: 26268585

Demirdas S, Coakley KE, Bisschop PH, Hollak CE, Bosch AM, Singh RH. Bone health in phenylketonuria: a systematic review and meta-analysis. Orphanet J Rare Dis. 2015 Feb 15;10(1):17. PMID: 25758373

Yi SH, Singh RH. Protein substitute for children and adults with phenylketonuria. Cochrane Database Syst Rev. 2015 Feb 27;(2):CD004731. PMID: 25723866

Burton B, Grant M, Feigenbaum A, Singh R, Hendren R, Siriwardena K, Phillips J 3rd, Sanchez-Valle A, Waisbren S, Gillis J, Prasad S, Merilainen M, Lang W, Zhang C, Yu S, Stahl S.  A Randomized, Placebo-controlled, Double-blind Study of Sapropterin to Treat ADHD Symptoms and Executive Function Impairment in Children and Adults with Sapropterin-Responsive Phenylketonuria.  Mol Genet Metab.  2014 Nov 26 (Epub).

Douglas TD, Ramakrishnan U, Kable JA, Singh RH. Longitudinal quality of life analysis in the  phenylketonuria cohort provided sapropterin dihydrochloride. Health Qual Life Outcomes, 2013 Dec 30; 11:218. PMID: 24373161

Douglas TD, Jinnah HA, Bernhard D, Singh RH. The effects of sapropterin on urinary monoamine metabolites in phenylketonuria. Mol Genet Metab. 2013 May 1 (Epub). PMID: 23712020

Singh RH, Quirk ME. Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria. Molecular Genetics and Metabolism, 2011 Dec; 104(4):485-91. Epub 2011 Sept 16

Yi SHL, Kable JA, Evatt ML, Singh RH. A cross-sectional study of docosahexaenoic acid status and  cognitive outcomes in females of reproductive age with phenylketonuria. J Inherit Metab Dis, Feb 9, 2011.

Yi SHL, Kable JA, Evatt ML, Singh RH. A randomized, placebo-controlled, double-blind trial of supplemental docosahexaenoic acid on cognitive processing speed and executive function in females of reproductive age with phenylketonuria: a pilot study. Prostaglandins, Leukotrienes, and Essential Fatty Acids; 85: 317-327, 2011.

Quirk ME, Schmotzer BJ, Singh RH. Predictive equations underestimate resting energy expenditure in female adolescents with phenylketonuria. J Am Diet Assoc. 2010 Jun;110(6):922-5.PMID: 20497783

Weaver MA, Johnson A, Singh RH, Wilcox WR, Lloyd-Puryear MA, Watson MS. Medical foods: Inborn errors of metabolism and the reimbursement dilemma. Genet Med. 2010 Jun;12(6):364-9.PMID: 20445457

Mazer LM, Yi SH, Singh RH. Docosahexaenoic acid status in females of reproductive age with maple syrup urine disease. J Inherit Metab Dis. 2010 Apr;33(2):121-7. Epub 2010 Mar 9.PMID: 20217236

Kemper AR, Brewer CA, Singh RH. Perspectives on dietary adherence among women with inborn errors of metabolism. J Am Diet Assoc. 2010 Feb;110(2):247-52.PMID: 20102852

Singh RH, Jurecki E, Rohr F. Recommendations for personalized dietary adjustments based on patient response to Tetrahydrobiopterin (BH4) in phenylketonuria. Top Clin Nutr. 23:(No.2)149-157, 2008.

Singh RH, Kaczmarczyk MM. Standards of professional practice for genetic metabolic dietitians. Genet Med. 10(4):290-293, 2008.

Gregory CO, Yu C, Singh RH. Phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods. Genet Med. 9:761-765, 2007.

Singh RH. The enigma of medical foods. Molecular Genetics and Metabolism. 92:3-5, 2007.

Singh RH. Nutritional Management of Patients with Urea Cycle Disorders. Journal of Inherited Metabolic Disease. 30(No.6)880-887, 2007.

Book Chapters

  • Singh RH. Homocystinuria. Pediatric Nutrition in Chronic Diseases and Development Disorders: Prevention, Assessment, and Treatment. Ekvall, SW (Ed). Oxford University Press, New York, NY, 2005.
  • Singh RH. Maple Syrup Urine Disease. Pediatric Nutrition in Chronic Diseases and Development Disorders: Prevention, Assessment, and Treatment. Ekvall, SW (Ed). Oxford University Press, New York, NY, 2005.

Manuals, Videos, Computer Programs, and Other Teaching Aids

2001 - Present

PKU Food Exchange List

Emory University Press

2002 - Present

MSUD Food Exchange List

Emory University Press


Low-Protein Cooking Conference



Nutritional Management of Urea Cycle Disorders: a practical reference for clinicians

Emory University Press