Specialty Care

Specialty Care

Infusion treatments, whether at home, in a healthcare clinic or other non-hospital setting, require highly trained Specialty Care nursing and pharmacy support. Trust becomes essential for these higher-risk infusion therapies that require ongoing care.

Anesthesiology

Intrathecal Home Infusion

Intrathecal Specialty Pharmacy

Neurology & Physiatry

Intrathecal Home Infusion

Intrathecal Specialty Pharmacy

Oncology

Hepatic Artery Home Infusion

Clinical Nutrition

Clinical Nutrition

Nutrition plays an essential role in sustaining quality of life for those who require care for complex conditions. Pentec Health provides personalized clinical nutrition solutions and superior community-based care.

Dialysis Clinics

IDPN/IPN

Nephrology

Medical Nutrition Therapy

Wound Care Clinics

Medical Nutrition Therapy

Parenteral Nutrition

Gastroenterology

Medical Foods

Enteral Nutrition

Metabolic Centers

Medical Foods

Low Protein Foods

Enteral Nutrition

Nutrition Counseling
Disease States

Disease States

Managing the multifaceted needs for a variety of conditions requiring clinical nutrition and specialty care therapies, services and products. This includes patients with kidney disease, kidney failure, chronic, non-healing wounds, gastrointestinal conditions, rare metabolic disorders, chronic pain, muscle spasticity or cancer within or that has metastasized in the liver.

Continuing Education

Continuing Education

By leveraging decades of clinical expertise, we are able to successfully demonstrate our industry leadership through webinars, speaker programs and research studies. We take pride in sharing valuable insights that enhance clinician education and practice.

Webinars
Research & Studies
Patient Resources

Patient Resources

We are committed to supporting patients by empowering them with knowledge and resources needed to navigate their healthcare journey with confidence.

Patient Education
Patient Forms
About

Pentec Health

Pentec Health is a national leader in clinical nutrition and specialty care integrating pharmacy services with clinical excellence to enhance the complex care journey.

Our Story
Our Values
Accreditations
Careers
February 5, 2026 / Blogs

Rare Disease Spotlight: Propionic Acidemia

Rare Disease Spotlight: Propionic Acidemia

When a newborn struggles to feed, becomes unusually drowsy, or develops unexplained vomiting in their first days of life, parents may face an unexpected diagnosis: propionic acidemia. This rare metabolic disorder affects approximately 1 in 100,000 people in the United States3, yet for the families living with it, the challenges are anything but uncommon.

Propionic acidemia (PA) is a rare inherited metabolic disorder that affects the body’s ability to properly process certain parts of proteins and fats. ¹ It is classified as an organic acidemia, a condition where a specific enzymatic deficiency leads to a harmful buildup of acids in the blood and urine. ² Like many other metabolic disorders, PA is a lifelong condition that requires careful management to prevent serious health complications. ¹

The genetic basis of propionic acidemia

PA is caused by mutations in either the PCCA or PCCB genes. These genes provide the instructions for making two parts of an enzyme called propionyl-CoA carboxylase.2

This enzyme plays a vital role in breaking down specific amino acids, the building blocks of proteins, as well as certain lipids and cholesterol. 2 When this enzyme is defective or missing, these substances cannot be processed correctly.1 This leads to an accumulation of propionic acid and other toxic compounds in the body, which can damage organs like the brain and heart. 2 

PA follows an autosomal recessive inheritance pattern; this means a child must inherit two copies of the non-working gene, one from each parent, to develop the disorder.1 Parents who carry only one copy of the mutated gene typically do not show symptoms themselves. When both parents are carriers, there is a 25% chance with each pregnancy that their child will be born with PA.2

Symptoms and diagnosis

The symptoms of propionic acidemia can vary in severity and age of onset. In most cases, symptoms appear within the first few days of life.1

Infants with the acute neonatal form may experience:

  • Poor feeding and lack of appetite
  • Vomiting
  • Excessive lethargy or drowsiness
  • Weak muscle tone (hypotonia)

If left untreated, these early symptoms can quickly progress to more serious medical issues, including seizures, coma, and potential heart or brain damage due to the buildup of toxic substances.

In some individuals, the condition presents later in childhood or even adulthood. This less severe, late-onset form may appear with milder symptoms such as developmental delays, chronic vomiting, or movement disorders.2

PA is often identified through newborn screening programs, which test for elevated levels of specific markers in a baby's blood shortly after birth. Diagnosis is then confirmed through further genetic testing or biochemical analysis of blood and urine.1

Treating propionic acidemia

While there is no cure for PA, early diagnosis and strict management can improve outcomes.1 The primary goal of treatment is to control the buildup of toxic acids while ensuring the body gets enough nutrition for growth.2

Management strategies typically include:

  • Dietary management: individuals must follow a strictly protein-restricted diet to limit the intake of isoleucine, valine, methionine, and threonine, the amino acids the body cannot process.1
  • Medical foods: specialized formulas that are free of the offending amino acids are essential to provide protein and other nutrients necessary for health.1
  • Medication: supplements such as L-carnitine may be prescribed to help remove toxic compounds from the body.2
  • Regular monitoring: frequent blood tests are required to monitor acid levels and nutritional status.3

In some severe cases, a liver transplant may be considered. Since the liver produces the enzyme that is missing in people with PA, a transplant can provide a new source of the enzyme, though it is a major surgical procedure with its own risks.1

How ZOIA Pharma can help

Living with PA means navigating complex dietary restrictions, specialized formulas, and constant monitoring, but families don't have to manage this journey alone.

Managing PA is a lifelong journey, but patients don't have to walk it alone. To learn more about managing metabolic disorders such as PA, visit ZOIA Pharma.

  1. Propionic Acidemia – National Organization for Rare Disorders.
    https://rarediseases.org/rare-diseases/propionic-acidemia/. Accessed 17 Dec. 2025.
  2. Galarreta Aima, Carolina I., et al. ‘Propionic Acidemia’. GeneReviews®, edited by Margaret P. Adam et al., University of Washington, Seattle, 1993. PubMed,
    http://www.ncbi.nlm.nih.gov/books/NBK92946/.
  3. Propionic Acidemia: MedlinePlus Genetics. https://medlineplus.gov/genetics/condition/propionic-acidemia/. Accessed 17 Dec. 2025.

Proudly Quality Accredited
National Quality Approval
The Joint Commission

Accredited Practice Transition
Program With Distinction
American Nurses Credentialing Center

NHIA Provider Member
National Home Infusion Association Center

By using this website you accept our privacy policy. Choose the browser data you consent to allow: