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Summary
METHYLMALONIC ACIDURIA (MMA)
METHYLMALONACIDURIA DUE TO METHYLMALONIC COA MUTASE ACIDEMIA, METHYLMALONIC
251000
OMIM = Online Medalian Inheritance of Men
27
6p12.3
  • amino acid mixture
  • cobalamin
  • creatine monohydrate
  • frequent feeding
  • glucose infusion (acute)
  • hemofiltration/hemodialysis/peritonealdialysis
  • kidney transplantation
  • L-carnitine
  • liver-kidney transplantation
  • low-protein diet
  • metronidazole
  • sodium bicarbonate
rare (1:20000 )
autosomal recessive
caused by mutation in the gene encoding methylmalonyl-CoA mutase (MUT)
mut0 and mut- defects, the latter with milder course
symptoms
Amino acids, urine
anemia
behavior, hyperactive, restless
cardiomyopathy
cardiomyopathy, dilated
coma
decreased body hair
dehydration
diarrhea
failure to thrive
feeding difficulties, poor feeding
growth retardation
hyperammonemia
hypothermia
hypotonia
ketosis
mental retardation
metabolic acidosis
nephrosis
neutropenia (decreased neutrophils)
onset, child
onset, infant
onset, newborn
Organic acids, urine
pancreatitis
respiratory distress
seizures
skin defects
spastic diplegia/quadriplegia
strokelike episodes
tachypnea, hyperpnea, dyspnea, respiratory distress
thrombopenia, thrombocytopenia
vomiting
laboratory finding
Methylmalonic acid150.0015500.000.002.00mmol/mol creatinineurinenewborn
Methylcitric acid150.002800.002.0012.00mmol/mol creatinineurinenewborn
3-Hydroxypropionic acid20.002000.003.0010.00mmol/mol creatinineurine
Propionylglycine0.00450.000.002.00mmol/mol creatinineurine
3-Hydroxyvaleric acid2.001200.000.002.00mmol/mol creatinineurinechild
Glycine1000.005000.000.00950.00mmol/mol creatinineurine
Methylmalonic acid121.00342.00 -Ámol/lspinal fluid
Ammonia60.002000.0025.0080.00-Ámol/lblood
Creatinine90.00329.0027.0088.00-Ámol/lserum
pCO215.0045.0038.0042.00mm Hgblood
pH7.007.407.357.45no unitblood
Methylmalonyl CoA mutase0.0010.00 100.00% of normalfibroblasts
Uric acid 0.605.50increasedserum
Acylcarnitine0.000.00 increasedurineno data
Ketone bodies0.000.00 +/++urineno data
Carnitine 23.0060.00decreasedplasma
MRI, brain, gray matter abnormalities -
Methylmalonic acid increasedplasma
5-Oxoproline0.000.00 increasedurineno data
Propionylcarnitine (C3) increasedblood
Methylmalonylcarnitine (C4DC) increasedblood
Gaucher cells, bone marrow, spleen150.0015500.000.002.00mmol/mol creatinineurinenewborn
Biopterin150.0015500.000.002.00mmol/mol creatinineurinenewborn
Inosine150.0015500.000.002.00mmol/mol creatinineurinenewborn
Transferrin150.0015500.000.002.00mmol/mol creatinineurinenewborn
Tyrosine150.0015500.000.002.00mmol/mol creatinineurinenewborn
Cortisol/cortisone ratio150.0015500.000.002.00mmol/mol creatinineurinenewborn
3-Aminoisobutyric acid0.000.00 increasedurineno data
Heptadecanoylcarnitine (C17)0.000.00 increasedbloodnewborn
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