Louis J. “Skip” Elsas, II

M.D. (1962), U. of Virginia

Professor of Pediatrics
and Biochemistry

Inborn metabolic diseases,
galactosemia

Tel. 305-243-7105

Fax 305-243-7254

Email lelsas@med.miami.edu

The specialty of medical genetics includes normal and abnormal variations in humans and spans all age groups and clinical disciplines. It includes five defined service areas: Clinical Genetics, Population/quantitative genetics, Biochemical Genetics, Cytogenetics, and Molecular Genetics. The latter three are laboratory-based diagnostic services. Since the power of medical genetics is the ability to predict, intervene, and prevent premature morbidity and mortality, I have focused on population-based newborn screening programs with efficient follow up, diagnosis, intervention, and outcome analyses.

These are necessary components of a program that integrates public health, academic, and private health care. Specialized care of children and adults with inherited metabolic disease are included. For example, common disorders such as diabetes, renal disease, hypertension, acidosis; and relatively rare disorders such as PKU, galactosemia, MSUD, homocystinuria, cystinuria, cystinosis, fatty acid oxidation, organic academia, and Lysosomal storage.

Representative Publications:

Elsas LJ, Lai K, Saunders CJ, and Langley SD. Functional Analysis of the Human Galactose-1-Phosphate Uridyltransferase Promoter in Duarte and LA Variant Galactosemia. Mol. Gen. And Metabolism, 72:297-305, 2001.

Elsas, LJ. Prenatal Diagnosis of Galactose-1-Phosphate Uridyltransferase (GALT)-deficient Galactosemia.  Prenat Diagn, 21:302-303, 2001.

Lai K, and Elsas LJ. Structure-function analysis of a common mutation in Blacks with transferase-deficiency galactosemia.  Molec. Gen and Metabolism 74:264-272, 2001.

Elsas LJ, Webb AL, Langley SD. Characterization of a carbohydrate response element regulating the gene for human galactose-1-phosphate uridyltransferase. Mol. Gen. and Metab. 76: 287-296, 2002.

Elsas LJ. Galactosemia in GeneClinics Reviews: http://www.geneclinics.org. March 27, 2003. (Revised 2005)

Webb A, Singh R, Kennedy M, Elsas, LJ. Verbal dyspraxia and Galactosemia. Pediatric Research 53: 396-402, 2003.

Lai K, Langley S, Kwaja F, Schmitt E, Elsas LJ. Galactose-1 Phosphate Uridyltransferase deficiency causes UDP-hexose deficit in human Galactosemic cells. Glycobiology, Vol.13, No.4:285-294, 2003.

Hsu, LL, Miller, S, Wright, E, Kutlar, A, McKie, V, Wang, W, Pegelow, C, Driscoll, C, Hurlet, A, Woods, G, Elsas, LJ, Embury, S, Adams, R, for the Stroke Prevention Trial (STOP) and the Cooperative Study of Sickle Cell Disease (CSSCD), Alpha Thalassemia is Associated with Decreased Risk of Abnormal Transcranial Doppler Ultrasonography in Children with Sickle Cell Anemia, Journal of Pediatric Hematology/Oncology, Vol 25, No. 8, August 2003.

Barbouth D,  Slepak T, Klapper H, Lai K and Elsas LJ:  Prevention of a Molecular Misdiagnosis in Galactosemia.  Genet in Med, 8(3): 178-182, March 2006.

Mnayer, L, Khuri S, Merheby HAA, Meroni G, Elsas LJ. A structure-function study of MID1 mutations associated with a mild Opitz phenotype. Molec. Gen and Metabolism 87(3):198-203, March 2006.

Elsas LJ. The history of the SIMD:  From small molecules to metabolomics.  Molec. Gen and Metabolism 87(3): 204-209, March 2006.