Skip to main content
Jose Camacho, MD, Medical Genetics, West Covina, CA

JoseCamachoMD

Medical Genetics • West Covina, CA

Clinical Genetics, Medical Biochemical Genetics

Physician

Join to view full profile

Dr. Camacho is on Doximity

As a Doximity member you'll join over two million verified healthcare professionals in a private, secure network.

  • Gain access to free telehealth tools, such as our “call shielding” and one-way patient texting.
  • Connect with colleagues in the same hospital or clinic.
  • Read the latest clinical news, personalized to your specialty.

See Dr. Camacho's full profile

Already have an account?

  • Office

    409 E Merced Ave Ste A
    West Covina, CA 91790
    Phone+1 858-699-7726
    Fax+1 858-793-5640

Summary

  • I am Board Certified in Pediatrics and Medical Biochemical Genetics.
    I mostly do clinical work. My main interest are patients with disorders
    of the Urea cycle, Lysosomal storage disease and Mitochondrial disease.
    My main research accomplishment was the discovery and characterization
    of three mitochondrial ornithine transporters, ORNT1, ORNT2 and ORNT3.
    Human ORNT1 is the gene that is responsible for HHH syndrome (Hyperornithinemia, Hyperammonemia Homocitrullinuria syndrome).

Education & Training

  • Johns Hopkins University
    Johns Hopkins UniversityFellowship, Medical Biochemical Genetics, 1982 - 1983
  • University of Missouri-Columbia
    University of Missouri-ColumbiaResidency, Pediatrics, 1980 - 1983
  • Universidad Central del Caribe School of Medicine
    Universidad Central del Caribe School of MedicineClass of 1980

Certifications & Licensure

  • NY State Medical License
    NY State Medical License 1985 - 2026
  • CA State Medical License
    CA State Medical License 1994 - 2025
  • MT State Medical License
    MT State Medical License 2014 - 2016
  • OK State Medical License
    OK State Medical License 2000 - 2003
  • MD State Medical License
    MD State Medical License 1998 - 2000
  • American Board of Medical Genetics and Genomics Medical Biochemical Genetics
  • American Board of Pediatrics Pediatrics

Awards, Honors, & Recognition

  • Postdoctoral Fellow Presentation 1998 American Society of Human Genetics Meeting Denver, Colorado ASHG, 1998

Clinical Trials

Publications & Presentations

PubMed

Journal Articles

  • BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms  
    Scott Barish 1, Tahsin Stefan Barakat 2, Brittany C Michel 3, Nazar Mashtalir 3, Jennifer B Phillips 4, Alfredo M Valencia 5, Berrak Ugur 6, Jeremy Wegner 4, Tiana M S..., Am J Hum Genet . 2020 Dec 3;107(6):1096-1112, 12/3/2020

Abstracts/Posters

  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Synonym: HHH Syndrome
    Camacho J, Rioseco-Camacho N, Andrade D, American Society of Human Genetics, Los Angeles, CA, 11/4/2003

Authored Content

  • Gene Reviews Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Synonym: HHH SyndromeFebruary 2020
  • Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complicationsJune 2012
  • The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndromeJuly 2009
  • Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndromeOctober 2006
  • Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorderAugust 2003
  • Identification and molecular analysis of the gene responsible for the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome.June 1999
  • Join now to see all

Grant Support

  • Mechanisms of disease for the Human ORNT1 deficiencyRobert Wood Johnson Foundation Harold Amos Minority Faculty Award2004–2009

Research History

  • Assistant Professor of Pediatrics UCI School of medicineWorked on characterizing additional mitochondrial ornithine transporters, ORNT2 (SLC25A2) and ORNT3 (SLC25A29) Described new ORNT1 mutations Worked on a MmOrnt1 KO model Characterized the MmOrnt2 gene2004 - 2013

Professional Memberships

Other Languages

  • Spanish

Industry Relationships

  • Speaker Bureau, Genzyme SanofiGives lectures about Fabry disease to affected families and Nieman Pick B to physiciansDisclosure: Get compensated per lecture (presentation)2019 - Present

Dr. Jose Camacho, Dr. Jose Camacho, MD, Dr. J Camacho