| METHYLMALONIC ACIDURIA (MMA) | |
| METHYLMALONACIDURIA DUE TO METHYLMALONIC COA MUTASE; ACIDEMIA, METHYLMALONIC | |
|
251000
OMIM = Online Mendelian Inheritance of Men | |
|
289916 | |
| methylmalonyl CoA mutase apoenzyme (mut0, mut-) | |
| 5.4.99.2 | |
| rare (1:50000 ) autosomal recessive caused by mutation in the gene encoding methylmalonyl-CoA mutase (MUT) mut0 and mut- defects, the latter with milder course | |
| Laboratory findings | 2-Methyl-2,3-dihydroxybutyric acid n/i (urine) Hippuric acid normal/inc (urine) Methylcitric acid inc (urine) 3-Aminoisobutyric acid inc (urine) 3-Hydroxypropionic acid inc (urine) Glycine inc (urine) Methylmalonic acid inc (urine) 3-Hydroxyvaleric acid inc (urine) Acylcarnitine (C2) inc (urine) Ammonia normal/inc (blood) Creatinine inc (serum) D-Glucose normal/dec (serum) Heptadecanoylcarnitine (C17) inc (blood) Ketone bodies (urine) normal/inc (urine) L-Carnitine dec (plasma) L-Pyroglutamic acid (5-Oxoproline) inc (urine) Methylmalonic acid inc (cerebrospinal fluid) Methylmalonic acid inc (plasma) Methylmalonyl CoA mutase dec (fibroblasts) Methylmalonylcarnitine (C4-DC) inc (blood) pCO2 normal/dec (blood) pH dec (blood) Propionylcarnitine (C3) inc (blood) Propionylcarnitine/Palmitoylcarnitine (C3/C16) inc (dried blood spot (DB) Propionylglycine inc (urine) Uric acid normal/inc (plasma) |
| Symptoms | ataxia coma encephalopathy pancreatitis lethargy, drowsiness, apathy malignant tumor (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma)Wilms) nephritis anemia basal ganglia, changes, lesions, calcifications (MRI, CT) cardiomyopathy, dilated cerebral edema chorea or athetosis decreased body hair decreased body height dystonia failure to thrive feeding difficulties, poor feeding hepatomegaly (large liver) hypertonia, spasticity hypoglycemia hypotonia ketosis, ketoacidosis metabolic acidosis myelination, incomplete, hypomyelination nephrosis neutropenia (decreased neutrophils) osteopenia psychomotor retardation renal failure, acute/chronic respiratory distress seizures thrombopenia, thrombocytopenia tubulopathy vomiting white matter changes, abnormalities Amino acids, urine behavior, hyperactive, restless cardiomyopathy dehydration diarrhea growth retardation, poor growth hyperammonemia hypothermia mental retardation motor retardation MRI, brain, abnormalities [-] MRI, brain, gray matter abnormalities [-] MRI, brain, white matter abnormalities [-] no clinical symptoms (probably) onset, childhood onset, infancy onset, neonatal optic atrophy optic neuropathy Organic acids, urine pulmonary hypertension skin defects spastic diplegia/quadriplegia/tetraplegia strokelike episodes tachypnea, hyperpnea, dyspnea, hyperventilation |