Organic acidemias: a methylmalonic and propionic focus.
The management of children with organic acidemias (OAs) is limited in nursing literature. This article focuses on the two more common OAs, methylmalonic and propionic acidemias. Literature search was done on PUBMED, CINAHL, OVID, UptoDate, and GeneReview. The benefit of early diagnosis and treatment has been well documented, but many unresolved aspects of care management remain. Patient care is a complex necessitation and a lifelong follow-up for complications. Caring for patients with OA requires that nurses increase their familiarity with metabolic genetics and develop a better understanding of proper medical and nursing management while research continues to determine the most beneficial treatment and long-term care management methods.
Van Gosen
Lori
L
Johns Hopkins School of Nursing, Johns Hopkins Children Center, Pediatric Clinical Research Unit, Baltimore, MD 21154, USA. patchsok@yahoo.com
D000138:Acidosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000628:therapy*; D000359:Aftercare; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000628:therapy*; D018753:Diet, Protein-Restricted; D042241:Early Diagnosis; D005440:Fluid Therapy; D005808:Genes, Recessive / Q000235:genetics; D005820:Genetic Testing; D006440:Hemofiltration; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D015931:Intensive Care, Neonatal; D016031:Liver Transplantation; D008764:Methylmalonic Acid / Q000378:metabolism*; D017283:Neonatal Nursing; D015997:Neonatal Screening; D024802:Nurse's Role; D009730:Nursing Assessment; D011296:Prenatal Diagnosis; D011422:Propionates / Q000378:metabolism*; D015996:Survival Rate
D011422:Propionates; D008764:Methylmalonic Acid; C029658:propionic acid