Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic. The spectrum of propionic acidemia (PA) ranges from neonatal-onset to late- onset disease. A number sign (#) is used with this entry because propionic acidemia is caused by mutation in the genes encoding propionyl-CoA carboxylase, PCCA ().
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Oral metronidazole has been shown to reduce propionic acid production by intestinal gut flora [ Thompson et alMellon et al ].
Clinical Characteristics Clinical Description Propionic acidemia presents with a wide spectrum of symptoms and age of onset. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment. Propionic acidemia PA should be suspected in individuals with any of the following presentations.
J Assist Reprod Genet.
Continued protein restriction and L-carnitine supplementation after OLT is advocated by several authors [ Saudubray et alYorifuji et alKasahara et al ]. See Quick Reference for an explanation of nomenclature. Propionic acidemia is characterized almost immediately in newborns. Expert curators review the literature and organize it to facilitate your work.
Consistent evaluation of the protein intake, depending on age, gender, severity of disorder and presence of other factors such as intercurrent illness, surgery, level of physical activity, and growth spurts to avoid insufficient or excessive protein restriction.
Evaluations Following Initial Diagnosis To establish the extent of disease and needs of an individual diagnosed with PA the following evaluations are recommended see Figure 2 if they have not already been completed: Deficiency of propionyl-CoA carboxylase results in accumulation of propionic acid and propionyl-CoA related metabolites in plasma and urine, causing a wide range of laboratory test abnormalities Figure 1.
An alternative approach involves the assay of propionyl-CoA carboxylase PCC enzyme activity in lymphocytes or cultured skin fibroblasts followed by molecular diagnosis [ Baumgartner et al ]. Biotin responsiveness in propionicacidaemia.
They gave detailed information on her pregnancy, which resulted in the birth of a healthy infant. Intentional infantile ethylene glycol poisoning presenting as an inherited metabolic disorder. National Center for Advancing Translational Sciences.
In addition, optic tract and cortical abnormalities have been occasionally noted [ Noval et alArias et al ]. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Home management of metabolic status.
In Japan, the live birth incidence of severe propionic acidemia is 1: The pathogenic variant c. Recommended protein intake depends on age of the patient see Table 11 in Baumgartner et al . Mutation analysis in 54 propionic acidemia patients.
Acidemia propionica by on Prezi
Variant designation that does not conform to current naming conventions. Methylmalonic and propionic acidurias: Oral antibiotic therapy to reduce gut propionate production may also prove useful Fenton et al. Revision History 6 October ha Comprehensive update posted live.
Individualized dietary management should be directed by an experienced physician and metabolic dietician to control the intake of propiogenic substrates and to guide increased ppropionica intake during illness to prevent catabolism.
Orphanet: Acidemia propionica
These events may occur in the absence of metabolic decompensation. Early and late complications after liver transplantation for propionic acidemia in children: Propionic acidemia PCC deficiency.
Failure to thrive may be exacerbated by malnutrition secondary to feeding difficulties, recurrent emesis, excessive protein restriction and potentially iatrogenic amino acid imbalances [ Manoli et al ]. In another case, ethylene glycol poisoning presented with hyperglycinemia and glycolic acid in urine [ Woolf et al ].
Genes and Databases for chromosome locus and protein. For an introduction to comprehensive genomic testing click here.
Individuals with PA are predisposed to basal ganglia lesions, especially during episodes of acute encephalopathy or metabolic instability [ Broomfield et al ]. Birth, infections, trauma, surgery, postpartum recovery, or other forms of stress and hormonal changes can result in a catabolic response that leads, among other things, to protein breakdown with release of propiogenic amino acids that cannot be metabolized in PA.
Quantitative plasma amino acids, urine organic acids, acylcarnitine profile, and fibroblast enzymatic analyses are not reliable for detection of heterozygotes. In-patient management Assess and manage ventilation acisemia circulation as necessary. Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicates both in ammonia detoxification and glucose metabolism.