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Summary
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
VITAMIN B12 METABOLIC DEFECT WITH METHYLMALONICACIDEMIA AND HOMOCYSTINURIA
277400
OMIM = Online Medalian Inheritance of Men
79282
1p34.1
  • betaine
  • L-carnitine
  • vitamin B12 (hydroxycobalamin)
rare (>550 cases)
autosomal recessive
mutation in the MMACHC gene
Methylmalonic aciduria and homocystinuria, cblC type is the most common inborn error of vitamin B(12) (cobalamin) metabolism [Lerner-Ellis JP et al. 2006]
partial CblC-type MMA can onset with severe metabolic aHUS [Chen M et al. 2017]
symptoms
acute kidney injury
Amino acids, plasma
anemia
ataxia
developmental delay
early death
failure to thrive
feeding difficulties, poor feeding
glossitis
heart involvement
hematuria
hemolysis
Hemolytic-uremic-syndrome
hydrops fetalis
hypotonia
lethargy, drowsiness, malaise or sleep disorder
mental retardation
metabolic acidosis
microcephaly (<2 SD for age)
neutropenia (decreased neutrophils)
nystagmus
onset, adolescent
onset, adulthood
onset, childhood
onset, fetus
onset, infancy
onset, neonatal
onset, variable age
Organic acids, urine
psychosis
renal failure, acute/chronic
retinal or macular degeneration
seizures
skin defects
stomatitis
thromboembolism
thrombopenia, thrombocytopenia
laboratory finding
Hemoglobine8.0012.0012.0020.00g/dlblood
Homocysteine increasedplasma
Methylmalonic acid150.0015500.000.002.00mmol/mol creatinineurinenewborn
Protein0.000.00 increasedurineno data
Methionine 11.0030.00normal/decreasedplasma
Homocysteine0.000.00 increasedurineno data
Betaine1200.005000.00 mmol/mol Creaurine
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