Coma, Dehydration, Delayed CNS myelination, Dysarthria, Dystonia, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Growth delay, Hemiplegia/hemiparesis, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Hypotonia, Immunodeficiency, Intellectual disability, Lethargy, Leukopenia, Macrocytic anemia, Metabolic ketoacidosis, Methylmalonic acidemia, Methylmalonic aciduria, Nausea and vomiting, Neurological speech impairment, Neutropenia, Optic atrophy, Pancreatitis, Paraparesis, Renal insufficiency, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency, Seizure, Sepsis, Splenomegaly, Stage 5 chronic kidney disease, Stroke, Tetraparesis, Thrombocytopenia, Tubulointerstitial nephritis, Vomiting

abnormal renal tubule morphology, abnormal respiratory electron transport chain, abnormal sphingolipid level, abnormal suckling behavior, absent gastric milk in neonates, acidemia, decreased circulating bicarbonate level, decreased locomotor activity, decreased renal glomerular filtration rate, decreased survivor rate, increased brain weight, increased circulating carnitine level, increased circulating creatinine level, increased urine sodium level, liver/biliary system phenotype, lung hemorrhage, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, oxidative stress, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death