Loren del Mar Pena

Loren del Mar Pena
Associate Professor of Pediatrics
Campus mail: 905 S. Lasalle St., GSRB 1, DUMC Box 103857, Durham, NC 27713

New therapeutic approaches for rare disorders
Propionic acidemia
Biomarkers of disease
Natural history of inborn errors of metabolism
Discovery of new genes involved in rare disorders

Education and Training

  • Northwestern University, Ph.D. 2002
  • Northwestern University Feinberg School of Medicine, M.D. 2004
  • University of Chicago, Medical Resident, Pediatrics, Pediatrics
  • University of Chicago, Medical Resident, Clinical Genetics, Human Genetics

Publications

Natural history of propionic acidemia

Propionic acidemia is an organic acidemia that can lead to metabolic acidosis, coma and death, if not treated appropriately in the acute setting.

Neurologic considerations in propionic acidemia

Propionic acidemia (PA) is an organic acidemia which has a broad range of neurological complications, including developmental delay, intellectual disability, structural abnormalities, metabolic stroke-like episodes, seizures, optic neuropathy, and

Premature pubarche in children with Pompe disease.

Pompe disease (PD), or glycogen storage disease type II, results from deficiency of acid α-glucosidase. Patients with infantile-onset PD die by early childhood if untreated. Patient survival has improved with enzyme replacement therapy.

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