Organic Acidemias

Question 1

Propionic acidemia inheritance and gene

Answer 1

AR, PCC

Question 2

Propionic acidemia enzyme deficiency

Answer 2

Propionyl-CoA carboxylase deficiency

Question 3

PA plasma AA profile

Answer 3

Elevated glycine and glutamine (but not homocysteine)

Question 4

Cofactor to supply in PA

Answer 4

Biotin

L-Carnitine

Question 5

Methylmalonic acidemia inheritance and gene

Answer 5

AR, MUT/MMAA/MMAB/MMADHC/MCEE

Question 6

Methylmalonic acidemia plasma AA profile

Answer 6

Elevated: glycine, glutamine, but not homocysteine

Question 7

Cofactors to supply for methylmalonic acidemia

Answer 7

B12

Oral L-carnitine

Question 8

Isovaleric Acidemia inheritance and gene

Answer 8

AR, IVD

Question 9

IVA enzyme deficiency

Answer 9

Isovaleryl-CoA Dehydrogenase

Question 10

IVA plasma AA profile

Answer 10

Elevated: glycine and glutamine but not homocysteine

Question 11

Biotinidase deficiency inheritance and gene

Answer 11

AR, BTD

Question 12

Biotinidase enzyme deficiency :P

Answer 12

Biotinidase

Question 13

3-MCC-CoA Carboxylase Deficiency inheritance and gene

Answer 13

AR, 3-MCC

Question 14

3-MCC carboxylase deficiency organic acid profile

Answer 14

Elevated: 3-methylcrotonylglycine and 3-OH-IVA

Question 15

3-HMG CoA Lyase Deficiency inheritance and gene

Answer 15

AR, HMGCL

Question 16

3-HCG CoA Lyase deficiency enzyme to restrict

Answer 16

Leucine

Question 17

3-MCC carboxylase deficiency AA to restrict

Answer 17

Leucine

Question 18

Glutaric acidemia type 1 inheritance and gene

Answer 18

AR, GCDH

Question 19

Glutaric acidemia enzyme deficiency

Answer 19

Glutaryl-CoA dehydrogenase

Question 20

GA1 AA to restrict

Answer 20

Lysine and tryptophan

Question 21

Untreated PA within a few days

Answer 21

Poor feeding
Lethargy
Vomiting
Hypotonia
Encephalopathy

Question 22

Prenatal dx of PA

Answer 22

Molecular testing for familial mutation

Amniotic fluid organic acid measurement possible

Question 23

Untreated Methylmalonic Acidemia

Answer 23

Neonatal encephalopathy

Question 24

Prenatal dx of methylmalonic acidemia

Answer 24

Molecular testing of familial mutation

Amniotic fluid organic acids or enzymes on CVS/amnio

Question 25

Untreated Isovaleric Acidemia

Answer 25

Encephalopathy

Question 26

Prenatal dx of IVA

Answer 26

Molecular testing of familial mutation

Amniotic fluid organic acids

Question 27

Biotinidase Deficiency

Answer 27

Develop after a few months
Dev delay, seizures, hypotonia
Ataxia 
Hearing loss
Visual problems 
Skin rash
Alopecia

Question 28

Prenatal dx of biotinidase deficiency

Answer 28

Molecular testing of familial mutation

Biotinidase enzyme activity measured on amniocytes

Question 29

Untreated 3-MCC Carboxylase Deficiency

Answer 29

Some episodic liver dysfunctions, hypotonia, hypoglycemia

May cause DD and seizures

Question 30

Untreated 3-HMG CoA Lyase Deficiency

Answer 30

Asymptomatic until decompensation

Liver dysfunction “reye syndrome” with hyperammonemia and hypoglycemia

Question 31

Untreated Glutaric Acidemia Type 1

Answer 31

Primary symotoms are neurologic