| METHYLMALONIC ACIDURIA, cblA TYPE | |
| METHYLMALONICACIDURIA, VITAMIN B12 RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OFADENOSYLCOBALAMIN cblA; ADENOSYLCOBALAMIN DE | |
|
251100
OMIM = Online Mendelian Inheritance of Men | |
|
79310 | |
| Methylmalonic aciduria type A protein, mitochondrial | |
| rare (>120 cases) autosomal recessive several forms the clinical picture cannot be differentiated from Methyl-malonyl-CoA mutase deficiency (MMA) cblA MIM 251100 cblB MIM 251110 diagnosis: treat with 1mg of hydroxycobolamin i.m. daily and monitor methylmalonic acid excretion in urine over 5 days | |
| Laboratory findings | Ammonia inc (blood) D-Glucose normal/dec (blood) Glycine inc (plasma) Glycine inc (urine) Hemoglobine normal/dec (blood) Ketone bodies (urine) inc (urine) Methylcitric acid inc (urine) Methylmalonic acid inc (urine) Methylmalonic acid inc (plasma) pH dec (blood) Propionylcarnitine/Palmitoylcarnitine (C3/C16) inc (dried blood spot (DB) Thrombocytes, Platelets dec (blood) |
| Symptoms | basal ganglia, changes, lesions, calcifications (MRI, CT) dehydration encephalopathy extrapyramidal signs failure to thrive hypotonia ketosis, ketoacidosis metabolic acidosis neutropenia (decreased neutrophils) optic neuropathy pancytopenia renal dysfunction, renal defects seizures vomiting Amino acids, plasma Amino acids, urine anemia coma early death Encephalopathic crisis, acute feeding difficulties, poor feeding hyperammonemia hypoglycemia mental retardation MRI, brain, abnormalities [-] onset, infancy onset, neonatal Organic acids, plasma Organic acids, urine renal failure, acute/chronic respiratory distress thrombopenia, thrombocytopenia tremor or twitching |