53%) - Females 8 5 Generalised aminoaciduria 8 6 Branched chain 2 2 aminoaciduria MSUD Methylmalonic aciduria 2 0 Tyrosinuria 1 0 Phenylketonuria 1 1 Argininemia 0 1 Non ketotic hyperglycinemia 1 0 Propionic acidemia 0 1 Isovaleric acidemia
0 0 Homocysteinuria 2 2 Metabolic Acidosis Hypoglycemia Total cases 24 10 Positive screening tests 12(50%) 5(50%) Age - Neonates 3 4 - 1 month-1 year 6 0 - 1-5 years 3 1 Sex - Males 7(58.
Jana Monaco, mother of two children with isovaleric acidemia
, says one medication her children need is covered by insurance, but the other is not.
TMS tests: Phenylketonuria, Isovaleric Acidemia
, Type 1 Glutaric Aciduria, Medium Chain Acyl CoA Dehydrogenase (MCAD) deficiency, HMG CoA lyase deficiency.
Doctors diagnosed him with Isovaleric Acidemia
(IVA), an organic acid disorder.
(IVA)  (OMIM #243500) is caused by a defect in leucine catabolism due to deficiency of isovaleryl-coenzyme A (CoA) dehydrogenase, leading to the accumulation of free isovaleric acid, 3-hydroxyisovaleric acid, N-isovalerylglycine, and isovalerylcarnitine (C5).
Commonly measured acylcarnitines and their associated disorders Analyte Disorder C0 free carnitine carnitine transporter deficiency C3 propionylcarnitine propionic and methylmalonic acidemia C4 butyrylcarnitine SCAD deficiency isobutyrlcarnitine isobutyryl dehydrogenase deficiency C5 isovalerylcarnitine isovaleric acidemia
C5DC glutarylcarnitine glutaric aciduria type 1 C50H hydroxyglutarylcarnitine 3-methylcrotonylcarboxylase and 3-HMG CoA lyase deficiency C8 octanoylcarnitine MCAD deficiency C14:1 tetradecenoylcarnitine VLCAD deficiency C16 palmitoylcarnitine CPT II, carnitine translocase deficiency C180H hydroxyoctadecanoylcarnitine LCHAD, trifunctional protein deficiency Note: This list is not meant to be complete.
Increased accumulation of IV-carnitine presumably results from increased accumulation of isovaleryl-CoA, which is the major targeted marker for isovaleric acidemia
, a disorder of leucine metabolism, and also of multiple acyl-CoA dehydrogenation defects resulting from impaired electron transport (7, 8).
At birth, a simple blood test screens babies for certain rare inherited disorders, including isovaleric acidemia