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Summary
PROPIONIC ACIDEMIA
KETOTIC HYPERGLYCINEMIA PA PROPIONIC ACIDEMIA PCC DEFICIENCY
606054
OMIM = Online Medalian Inheritance of Men
35
13q32.3, 3p22.3
  • arginine-HCl
  • frequent feeding
  • glucose infusion (acute)
  • hemofiltration/hemodialysis/peritonealdialysis
  • human growth hormone (hGH)
  • intestinal motility agents
  • L-carnitine
  • low-protein diet
  • metronidazole
  • sodium benzoate
  • sodium bicarbonate
  • sodium phenylacetate
rare
autosomal recessive
prenatal diagnosis in amnion fluid
Since mild C3 elevations may be overlooked and considered non-diagnostic in isolation, we advise considering a diagnosis of propionic acidemia
even in the absence of significant elevations 2-methylcitrate or 3-hydroxypropionate in urine organic acid analysis [Cappucio G et al. 2016]
symptoms
Amino acids, plasma
Amino acids, urine
behavior, hyperactive, restless
cardiac arrhythmia, dysrhythmia
cardiomegaly
cardiomyopathy
cardiomyopathy, dilated
coma
decreased body hair
dehydration
dermatitis
failure to thrive
feeding difficulties, poor feeding
glaucoma
growth retardation
hearing defect, deafness
hyperammonemia
hypoglycemia
hypothermia
ketosis, ketoacidosis
lethargy, drowsiness, malaise or sleep disorder
mental retardation
metabolic acidosis
neutropenia (decreased neutrophils)
onset, childhood
onset, neonatal
optic atrophy
optic neuropathy
Organic acids, plasma
Organic acids, urine
pancreatitis
pyloric stenosis
recurrent or intermittent skin defect
respiratory distress
seizures
skin defects
spastic diplegia/quadriplegia
strokelike episodes
tachypnea, hyperpnea, dyspnea, respiratory distress
thrombopenia, thrombocytopenia
vomiting
laboratory finding
L-Glutamine500.001000.00178.00886.00-Ámol/lplasma
Carnitine10.0020.0040.0060.00-Ámol/lplasma
Propionic acid0.005.00 -Ámol/lplasma
Ammonia60.002000.0025.0080.00-Ámol/lblood
3-Hydroxyvaleric acid2.001200.000.002.00increasedurinechild
Methylcitric acid150.002800.002.0012.00mmol/mol creatinineurinenewborn
pCO215.0045.0038.0042.00mm Hgblood
pH7.007.407.357.45no unitblood
Propionylglycine0.00450.000.002.00increasedurine
3-Hydroxypropionic acid20.002000.003.0010.00mmol/mol creatinineurine
Glycine800.001400.00230.00450.00-Ámol/lplasma
Glycine 210.00743.00increasedurine
Propionyl CoA carboxylase1.005.00 100.00% of normalfibroblasts
Human growth hormone (hGH) decreasedplasma
Ketone bodies0.000.00 +/++urineno data
Tiglylglycine 0.106.70increasedurine
Acylcarnitine0.000.00 increasedurineno data
D-Glucose decreasedblood
Human growth hormone (hGH)
MRI, brain, gray matter abnormalities -
5-Oxoproline0.000.00 increasedurineno data
Propionylcarnitine (C3) increasedblood
3-Hydroxybutyrate + Acetoacetate0.000.00 increasedurineno data
Acetoacetic acid0.000.00 increasedurineno data
Acetone0.000.00 increasedurineno data
Propionylcarnitine (C3)0.000.00 increasedurineno data
Heptadecanoylcarnitine (C17)0.000.00 increasedbloodnewborn
Literature
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Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Meikle PJet al.Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategyPediatrics1144909-9162004
Wortmann SB,et al.The 3-methylglutaconic acidurias: whats new?J Inher Metab Dis35113-222012
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
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