| ISOVALERIC ACIDEMIA (IVA) | |
| ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY | |
|
243500
OMIM = Online Mendelian Inheritance of Men | |
|
33 | |
| Isovaleryl-CoA dehydrogenase, mitochondrial | |
| 1.3.8.4 | |
| rare (1:100000) autosomal recessive mutation in the isovaleryl CoA dehydrogenase gene (IVD) False positive newborn screening results for IVA due to maternal pivmecillinam administration | |
| Laboratory findings | 3-Hydroxyisovaleric acid inc (urine) Isovaleroylglycine inc (urine) 2-Methyl-cis-aconitic acid inc (urine) 2-Methylfumaric acid inc (urine) 2-Methylsuccinic acid inc (urine) 3-Hydroxybutyric acid inc (urine) 4-Hydroxyisovaleric acid inc (urine) Acylcarnitine (C2) inc (urine) Ammonia normal/inc (blood) Creatinine inc (serum) D-Glucose dec (serum) Glycine inc (urine) Isovaleric acid inc (urine) Isovalerylasparagine inc (urine) Isovalerylcarnitine (C5) inc (blood) Isovalerylhistidine inc (urine) Isovaleryllysine inc (urine) Isovaleryltryptophan inc (urine) Ketone bodies (urine) inc (urine) L-Carnitine dec (plasma) N-Acetyltryptophane inc (urine) pCO2 normal/dec (blood) pH dec (blood) Transaminases (ASAT/ALAT) normal/inc (serum) Uric acid normal/inc (plasma) |
| Symptoms | ketosis, ketoacidosis sweaty feet odor abnormalities (T) of the globus pallidus (MRI) bone marrow abnormality shortened gestation time altered consciousness, consciousness disturbance ataxia coma developmental delay encephalopathy episodic course (metabolic findings) failure to thrive fatigue, severe or unusual feeding difficulties, poor feeding hyperuricemia hypothermia lethargy, drowsiness, apathy leukopenia metabolic acidosis neutropenia (decreased neutrophils) pancreatitis psychomotor retardation seizures thrombopenia, thrombocytopenia tremor or twitching unusual odor / odour vomiting white matter changes, abnormalities dehydration Encephalopathic crisis, acute hyperammonemia hypoglycemia infantile spasms mental retardation MRI, brain, abnormalities [-] onset, infancy onset, neonatal Organic acids, urine pain, abdominal respiratory distress tachypnea, hyperpnea, dyspnea, hyperventilation |