Organic Acid Disorders

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Disease Name Propionic acidemia
Alternate name(s) Propionyl-CoA carboxylase deficiency, PCC deficiency, Ketotic hyperglycinemia
Acronym PA
Disease Classification Organic Acid Disorder
Variants Yes
Variant name Late onset (> 6weeks)
Symptom onset Neonatal
Symptoms Episodic crises leading to neurologic damage, coma and death.
Natural history without treatment Metabolic crises may lead to neurologic damage including mental retardation, movement disorders, seizures. coma and sudden death are also possible.
Natural history with treatment If treatment instituted before metabolic crisis, normal IQ and development may be seen. Treatment may improve some
symptoms of affected individuals.
Treatment Protein restricted diet with supplementary medical formula,
carnitine supplementation, ketone monitoring, avoidance of
fasting, cornstarch supplementation, biotin supplementation.
Antibiotic (metronidazole and neomycin) treatment. Human
growth hormone therapy.
Other N/A
Physical phenotype Characteristic facies including frontal bossing, widened
depressed nasal bridge, epicanthal folds, long philtrum, upturned curvature of the lips and possible hypoplastic/inverted nipples.
Inheritance Autosomal recessive
General population incidence 1:35,000 to 1:75,000 (may be underestimate as infants may die undiagnosed)
Ethnic differences Yes
Population Saudi Arabia
Ethnic incidence 1:2000 to 1:5000
Enzyme location Mitochondria
Enzyme Function Intermediary in the metabolism of isoleucine, valine, threonine
and methionine.
Missing Enzyme Propionyl-CoA carboxylyase
Metabolite changes Increased glycine in blood and urine, 3-hydroxypropionic acid in
blood and urine, methylcitrate, tiglic acid, tiglyglycine butanone
and propionyl glycine in urine.
Gene Enzyme is made up of alpha and beta subunits coded for by
different genes - PCCA and PCCB.
Gene location PCCA = 13q32
PCCB = 3q13.3-22
DNA testing available Not available on a routine basis, but may be available on a
research basis.
DNA testing detail No common mutations known.
Prenatal testing Enzyme activity in amniocytes. GCMS assay in amniotic fluid. If
DNA mutations known, DNA testing is possible.
MS/MS Profile N/A
Genetests Link
Support Group

Organic Acidemia Association

Save Babies through Screening Foundation

Genetic Alliance

Propionic Acidemia Foundation

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