Organic Acidemias Flashcards
Propionic acidemia inheritance and gene
AR, PCC
Propionic acidemia enzyme deficiency
Propionyl-CoA carboxylase deficiency
PA plasma AA profile
Elevated glycine and glutamine (but not homocysteine)
Cofactor to supply in PA
Biotin
L-Carnitine
Methylmalonic acidemia inheritance and gene
AR, MUT/MMAA/MMAB/MMADHC/MCEE
Methylmalonic acidemia plasma AA profile
Elevated: glycine, glutamine, but not homocysteine
Cofactors to supply for methylmalonic acidemia
B12
Oral L-carnitine
Isovaleric Acidemia inheritance and gene
AR, IVD
IVA enzyme deficiency
Isovaleryl-CoA Dehydrogenase
IVA plasma AA profile
Elevated: glycine and glutamine but not homocysteine
Biotinidase deficiency inheritance and gene
AR, BTD
Biotinidase enzyme deficiency :P
Biotinidase
3-MCC-CoA Carboxylase Deficiency inheritance and gene
AR, 3-MCC
3-MCC carboxylase deficiency organic acid profile
Elevated: 3-methylcrotonylglycine and 3-OH-IVA
3-HMG CoA Lyase Deficiency inheritance and gene
AR, HMGCL
3-HCG CoA Lyase deficiency enzyme to restrict
Leucine
3-MCC carboxylase deficiency AA to restrict
Leucine
Glutaric acidemia type 1 inheritance and gene
AR, GCDH
Glutaric acidemia enzyme deficiency
Glutaryl-CoA dehydrogenase
GA1 AA to restrict
Lysine and tryptophan
Untreated PA within a few days
Poor feeding Lethargy Vomiting Hypotonia Encephalopathy
Prenatal dx of PA
Molecular testing for familial mutation
Amniotic fluid organic acid measurement possible
Untreated Methylmalonic Acidemia
Neonatal encephalopathy
Prenatal dx of methylmalonic acidemia
Molecular testing of familial mutation
Amniotic fluid organic acids or enzymes on CVS/amnio
Untreated Isovaleric Acidemia
Encephalopathy
Prenatal dx of IVA
Molecular testing of familial mutation
Amniotic fluid organic acids
Biotinidase Deficiency
Develop after a few months Dev delay, seizures, hypotonia Ataxia Hearing loss Visual problems Skin rash Alopecia
Prenatal dx of biotinidase deficiency
Molecular testing of familial mutation
Biotinidase enzyme activity measured on amniocytes
Untreated 3-MCC Carboxylase Deficiency
Some episodic liver dysfunctions, hypotonia, hypoglycemia
May cause DD and seizures
Untreated 3-HMG CoA Lyase Deficiency
Asymptomatic until decompensation
Liver dysfunction “reye syndrome” with hyperammonemia and hypoglycemia
Untreated Glutaric Acidemia Type 1
Primary symotoms are neurologic
