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PubMed This is a summary of 19 peer-reviewed journal articles Updated
Medical genetics

Long-Term Complications and Multi-System Monitoring

At a Glance

Propionic acidemia can affect the heart, brain, kidneys, vision, hearing, pancreas, and bones even between metabolic crises. Regular, individualized monitoring by a metabolic team and specialists can detect complications early, while sudden neurological or severe abdominal symptoms need emergency care.

Propionic Acidemia (PA) is a multisystem disease, meaning it can affect many different parts of the body over the lifespan [1]. Important complications can occur between metabolic crises and may not be detected by testing ammonia alone [2][3]. Monitoring these systems regularly can detect problems early, though it cannot guarantee prevention [4].

URGENT WARNING:
If you or your child experience a new neurological symptom (such as sudden weakness, trouble speaking, a new movement change, loss of consciousness, or a seizure), fainting, sudden vision change, or severe abdominal pain and vomiting, this is a medical emergency. Call emergency services (911) or go to the emergency department immediately. Do NOT wait for an outpatient scan. Alert the metabolic team as soon as possible.

Protecting the Heart

The heart is one of the most important organs to monitor in PA, as metabolites can affect heart rhythm and strength [2][5]. Always consult the metabolic and cardiology teams before using new medications, as some can worsen heart rhythms.

  • Cardiomyopathy: This is a weakening of the heart muscle. In some patients, the heart may become enlarged (dilated cardiomyopathy) [2]. Doctors use an echocardiogram to check its strength. A specialized measurement called global longitudinal strain (GLS) may be used to find small changes early [6][7].
  • Prolonged QTc: This is a change in the heart’s electrical rhythm seen on an ECG (electrocardiogram), which can increase the risk of fainting or dangerous arrhythmias [2][5].

Neurological Health and “Metabolic Strokes”

PA can cause injury to the brain, particularly in the basal ganglia, which helps control movement [8].

  • Metabolic Strokes: These are sudden episodes of brain injury that look like a stroke [8]. These can happen even when a patient is not in an acute metabolic crisis [9]. MRI can be useful for evaluation, though changes may not show up on a scan immediately [8][10].
  • Development and Behavior: Some individuals with PA develop seizures, intellectual disability, or behavioral challenges [11][12]. Age-appropriate developmental, neuropsychological, and mental-health assessments (including autism or anxiety screening when prompted by symptoms or school concerns) are important to ensure appropriate support [13].

Other Vital Organs

Because metabolites travel through the bloodstream, several other systems require regular, individualized check-ups:

  • Kidneys: Chronic kidney disease (CKD) can develop [14]. Standard blood tests like creatinine can be misleading in patients with low muscle mass, so doctors may use cystatin C for a more accurate picture of kidney function (eGFR) [14][15].
  • Vision and Hearing: Some patients develop optic neuropathy, a loss of vision caused by damage to the optic nerve [16]. Hearing loss is also a reported complication [17].
  • Pancreas: Recurrent pancreatitis (inflammation of the pancreas) can cause severe abdominal pain and vomiting [18].
  • Bones: Individuals with PA are at risk for osteopenia (weak bones), increasing the risk of fractures [19].

Building a Multidisciplinary Care Team

Managing PA requires a comprehensive team. The exact testing frequency and specialist referrals depend on age, symptoms, transplant status, and the local protocol. A care team usually includes:

  1. Metabolic Geneticist & Dietitian: The core team managing diet, medications, and overall strategy [4].
  2. Cardiologist: Performs regular heart scans and ECGs [1].
  3. Neurologist: Monitors for seizures, strokes, and movement disorders [1].
  4. Nephrologist: Tracks kidney health and manages medications [15].
  5. Ophthalmologist: Conducts specialized eye exams [16].
  6. Psychologist/Developmental Specialist: Provides support for learning needs and mental health [13].

Note: As pediatric patients grow, transition planning to adult metabolic care, as well as genetic counseling for the patient’s future family planning, are critical steps in long-term management.

Common questions in this guide

Why does propionic acidemia need monitoring between metabolic crises?
Propionic acidemia can affect the heart, brain, kidneys, vision, hearing, pancreas, and bones even when a person is not having an acute metabolic crisis. Ammonia testing alone may not detect every complication, so regular checks tailored to the patient can help find problems earlier.
Which heart tests are used to monitor propionic acidemia?
An ECG checks the heart’s electrical rhythm, and an echocardiogram checks how well the heart muscle pumps. Some care teams also use global longitudinal strain, or GLS, to look for early changes in heart muscle function. Ask the metabolic and cardiology teams before starting new medicines because some can affect heart rhythm.
Can propionic acidemia cause stroke-like episodes?
Yes. Propionic acidemia can cause metabolic strokes, which are episodes of brain injury that may look like a stroke and can occur outside an acute metabolic crisis. Sudden weakness, trouble speaking, a new movement change, loss of consciousness, or a seizure requires emergency evaluation; an MRI may help, although early scans can sometimes be unrevealing.
How is kidney function checked in someone with propionic acidemia?
Propionic acidemia can be associated with chronic kidney disease. Creatinine may give a misleading result in people with low muscle mass, so the care team may also use cystatin C to estimate kidney function more accurately.
How often should someone with propionic acidemia see specialists?
There is no single schedule for every patient. The timing of heart, neurological, kidney, eye, hearing, developmental, and mental-health assessments depends on age, symptoms, transplant status, and local care protocols, so the metabolic team should coordinate an individualized plan.
When should someone with propionic acidemia seek emergency care?
Call emergency services or go to an emergency department immediately for a new neurological symptom, fainting, sudden vision change, or severe abdominal pain with vomiting. Do not wait for an outpatient scan, and notify the metabolic team as soon as possible.

Questions For You

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Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What is our current schedule for cardiac screening, including ECGs and echocardiograms?
  2. 2.Has the team considered a global longitudinal strain (GLS) measurement to check for early signs of heart muscle stress?
  3. 3.How often should vision and hearing be checked by specialists familiar with PA?
  4. 4.What is the latest kidney function (eGFR), and should we use cystatin C for a more accurate measurement?
  5. 5.Can you help us coordinate age-appropriate developmental, behavioral, or neuropsychological assessments?
  6. 6.What are the plans for transitioning from pediatric to adult metabolic care?

References

References (19)
  1. 1

    Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.

    Chakrapani A, Stojanovic J, Vara R, et al.

    Journal of inherited metabolic disease 2023; (46(3)):466-481 doi:10.1002/jimd.12613.

    PMID: 37067856
  2. 2

    Cardiac phenotype in propionic acidemia - Results of an observational monocentric study.

    Kovacevic A, Garbade SF, Hoffmann GF, et al.

    Molecular genetics and metabolism 2020; (130(1)):41-48 doi:10.1016/j.ymgme.2020.02.004.

    PMID: 32067920
  3. 3

    Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study.

    Mekdade T, Bérat CM, Schiff M, et al.

    Journal of inherited metabolic disease 2026; (49(4)):e70216 doi:10.1002/jimd.70216.

    PMID: 42348330
  4. 4

    Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation.

    Bordugo A, Salvetti E, Rodella G, et al.

    Microorganisms 2021; (9(12)) doi:10.3390/microorganisms9122599.

    PMID: 34946200
  5. 5

    Mechanisms of acquired long QT syndrome in patients with propionic academia.

    Bodi I, Grünert SC, Becker N, et al.

    Heart rhythm 2016; (13(6)):1335-45.

    PMID: 26854997
  6. 6

    Detection of early cardiac disease manifestation in propionic acidemia - Results of a monocentric cross-sectional study.

    Kovacevic A, Garbade SF, Hörster F, et al.

    Molecular genetics and metabolism 2022; (137(4)):349-358 doi:10.1016/j.ymgme.2022.10.007.

    PMID: 36395710
  7. 7

    Global Longitudinal Strain Alteration of the Left Ventricle in Children with Organic Aciduria: Cardiac Disease in Organic Aciduria.

    Moysset B, Hoebeke C, Chabrol B, et al.

    Journal of clinical medicine 2026; (15(4)) doi:10.3390/jcm15041393.

    PMID: 41753080
  8. 8

    Metabolic Strokes in Propionic Acidemia: Transient Hemiplegic Events Without Encephalopathy.

    Almuqbil M, Chinsky JM, Srivastava S

    Child neurology open 2019; (6()):2329048X19873242 doi:10.1177/2329048X19873242.

    PMID: 31523698
  9. 9

    Fatal metabolic stroke in a child with propionic acidemia 11 years post liver transplant.

    Sivananthan S, Hadžić N, Dhawan A, et al.

    American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2021; (21(4)):1637-1640 doi:10.1111/ajt.16400.

    PMID: 33205569
  10. 10

    Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy.

    Fels-Palesandro H, Hörster F, Haas D, et al.

    Journal of inherited metabolic disease 2025; (48(6)):e70101 doi:10.1002/jimd.70101.

    PMID: 41189453
  11. 11

    Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients.

    AlGhamdi A, Alrifai MT, Al Hammad AI, et al.

    Journal of child neurology 2018; (33(11)):713-717 doi:10.1177/0883073818786157.

    PMID: 30014764
  12. 12

    Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia.

    Rivera-Barahona A, Alonso-Barroso E, Pérez B, et al.

    Molecular genetics and metabolism 2017; (122(1-2)):43-50 doi:10.1016/j.ymgme.2017.07.009.

    PMID: 28774709
  13. 13

    Autism spectrum disorders in propionic acidemia patients.

    de la Bâtie CD, Barbier V, Roda C, et al.

    Journal of inherited metabolic disease 2018; (41(4)):623-629 doi:10.1007/s10545-017-0070-2.

    PMID: 28856627
  14. 14

    Chronic kidney disease in propionic acidemia.

    Shchelochkov OA, Manoli I, Sloan JL, et al.

    Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(12)):2830-2835 doi:10.1038/s41436-019-0593-z.

    PMID: 31249402
  15. 15

    Early and late complications after liver transplantation for propionic acidemia in children: a two centers study.

    Charbit-Henrion F, Lacaille F, McKiernan P, et al.

    American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2015; (15(3)):786-91 doi:10.1111/ajt.13027.

    PMID: 25683683
  16. 16

    Optic neuropathy in methylmalonic acidemia and propionic acidemia.

    Martinez Alvarez L, Jameson E, Parry NR, et al.

    The British journal of ophthalmology 2016; (100(1)):98-104 doi:10.1136/bjophthalmol-2015-306798.

    PMID: 26209586
  17. 17

    Anesthetic Management of a Child With Propionic Acidemia Complicated by Bacteremia and Severe Acute Respiratory Syndrome Coronavirus 2.

    Sibulo L, Kogel W, Landolt L, et al.

    Journal of medical cases 2021; (12(4)):152-156 doi:10.14740/jmc3628.

    PMID: 33984087
  18. 18

    Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child.

    Choe JY, Jang KM, Min SY, et al.

    Journal of Korean medical science 2019; (34(47)):e303 doi:10.3346/jkms.2019.34.e303.

    PMID: 31808324
  19. 19

    Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.

    Kör D, Şeker-Yılmaz B, Bulut FD, et al.

    The Turkish journal of pediatrics 2019; (61(3)):330-336.

    PMID: 31916709

This page is for educational purposes and does not constitute medical advice. Your metabolic team and specialists should tailor monitoring and emergency plans to your or your child’s needs.