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Summary
METHYLMALONIC ACIDURIA, cblA TYPE
METHYLMALONICACIDURIA, VITAMIN B12 RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OFADENOSYLCOBALAMIN cblA ADENOSYLCOBALAMIN DE
251100
OMIM = Online Medalian Inheritance of Men
79310
4q31.21
  • low-protein diet
  • vitamin B12 (hydroxycobalamin)
rare
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
symptoms
Amino acids, plasma
Amino acids, urine
anemia
coma
dehydration
early death
encephalopathy
failure to thrive
feeding difficulties, poor feeding
hyperammonemia
hypoglycemia
ketosis, ketoacidosis
mental retardation
metabolic acidosis
neutropenia (decreased neutrophils)
onset, infancy
onset, neonatal
Organic acids, plasma
Organic acids, urine
renal dysfunction, renal defects
renal failure, acute/chronic
seizures
thrombopenia, thrombocytopenia
tremor or twitching
vomiting
laboratory finding
Methylmalonic acid100.005000.000.0079.00mmol/mol creatinineurine
Methylmalonic acid10.00100.00 -Ámol/lplasma
Glycine800.001400.00230.00450.00-Ámol/lplasma
Glycine1000.005000.00210.00743.00mmol/mol creatinineurine
Methylcitric acid30.00500.002.0012.00mmol/mol creatinineurinenewborn
Ketone bodies ++/+++urine
pH 7.357.45decreasedblood
Ammonia 25.0080.00increasedbloodinfant
Hemoglobine8.0012.0012.0015.00g/dlblood
D-Glucose 3.305.50decreasedblood
Thrombocytes, Platelets 150.00400.00decreasedblood
Literature
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