From: Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Parameter | Condition | ||||||||
---|---|---|---|---|---|---|---|---|---|
UCD | MMA/PA | β-Keto-thiolase deficiency | MSUD | β-oxidation defects | HMG CoA lyase deficiency | HIHA | Mitochondrial/PC deficiencye | PDH deficiency | |
↑ NH3 | ++ | + | – | – | +/– | + | + | +/– | – |
Acidosis | +/– | + | ++ | – | +/– | + | – | + | + |
Ketonuriaa | – | ++/+++ | +++ | +/++ | – | – | – | +/++ | – |
Hypoglycemiab | – | +/– | – | – | + | + | ++ | +/– | – |
↑ Lactic acidc | – | + | + | – | +/– | + | - | ++ | ++ |
↑ AST & ALT | (+) | +/– | – | – | ++ | +/– | – | +/– | – |
↑ CPK | – | – | – | – | ++ | – | – | +/– | – |
↑ Uric acid | – | + | + | + | + | + | – | +/– | +/– |
↑ WBC/RBC/Plt | – | + | – | – | – | – | – | +/– | – |
Weight loss | – | +d | + | +/– | – | – | – | + | – |