Table 5.

Propionic Acidemia: Recommended Evaluations Following Initial Diagnosis

EvaluationComment
Consultation w/metabolic physician, biochemical geneticist, & specialist metabolic dietitian 1
  • Transfer to specialist center w/experience in mgmt of inherited metabolic diseases (strongly recommended).
  • Consider short hospitalization at a center w/expertise for inherited metabolic conditions to provide caregivers with detailed education (natural history, maintenance & emergency treatment, prognosis, & risks for acute encephalopathic crises).
Laboratory studies in symptomatic persons
  • Blood gas w/base balance
  • Electrolytes w/anion gap, calcium, & phosphorus
  • Glucose
  • Plasma ammonia level
  • Urine ketones
  • Plasma amino acids
  • Urine organic acids
  • Acylcarnitine profile
  • Total & free carnitine levels
  • Complete blood count 2
  • Amylase & lipase 3
Laboratory studies in asymptomatic or stabilized persons
  • Assessment of nutritional status (calcium, phosphorus, albumin, plasma amino acids, vitamin levels [incl thiamine & 25-hydroxyvitamin D])
  • Iron panel
  • Kidney function (e.g., cystatin C, parathyroid hormone, erythropoietin)
  • CBC to assess for cytopenias
Measurement of growth parameters Assessment for growth failure & microcephaly
Neurologic eval
  • Consider brain MRI if the neurologic eval is abnormal.
  • Consider EEG if seizures are a concern.
EKG & echocardiogram 4 Assessment for cardiomyopathy, prolonged QTc interval, & arrhythmia
Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk or significant feeding difficulties.
Immunology & hematology eval
  • Consider in persons w/cytopenias or suspicion for immunodeficiency.
  • To assess for hypogammaglobulinemia, B-cell lymphopenia, & ↓ CD4 & CD8 counts
  • Complete adherence to regional immunization schedules & influenza vaccination is indicated. 5
Dilated eye exam Assessment for optic atrophy & other vision abnormalities
Audiology eval Assessment for sensorineural hearing loss
Developmental assessment
  • Consultation w/PT, OT, & speech therapist
  • Consider referral to developmental pediatrician.
Osteopenia eval
  • Consider in persons w/history of fractures or nutritional concerns.
  • DXA scan might aid in eval in persons age ≥3 yrs.
Consultation w/psychologist &/or social worker Assessment of parental & affected person's coping skills & resources
Genetic counseling by genetics professionals 6 To obtain a pedigree & inform affected persons & families re nature, MOI, & implications of PA

CBC = complete blood count; DXA = dual-energy x-ray absorptiometry; MOI = mode of inheritance; OT = occupational therapist; PA = propionic acidemia; PT = physical therapist

1.

After a new diagnosis of PA in a child, the closest hospital and local pediatrician should also be informed.

2.

To evaluate for cytopenias. Consider initiating an evaluation for sepsis if the CBC and clinical signs are suggestive of an infection.

3.

To evaluate for pancreatitis

4.

Consider ambulatory EKG monitoring.

5.
5.

Medical geneticist, certified genetic counselor, and certified advanced genetic nurse

From: Propionic Acidemia

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