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Table 1 Biochemical, clinical, and genetic characteristics of the siblings

From: Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

Patient no. Gender Current age Age at test MS/MS analysis Methylmalonic acid (mmol/mol creatinine)d Methycitrate (mmol/mol creatinine)e Homocysteine (μmol/L)f DQ Cerebral MRI Genotype
C3 (μmol/L)a C3/C2b C3/C0c
II:1 Male 10 y, 8 m 9 y, 9 m 4.96 0.53 0.26 32.51 0.24   ND Normal Homozygous for c.365T>C variant
    9 y, 11 m 1.22 0.31 0.12 13.29 0.76 6.07
II:2 Female 1 y, 2 m 4 d (NBS) 7.05 0.71 0.85       Homozygous for c.365T>C variant
    12 d 8.14 1.3 0.81 56.46 5.49    
    45 d 9.93 1.54 1.01      
    50 dg 19.76 1.08 0.57      
    2 m 6.3 0.28 0.11 8.88 3.95 6.5   Normal
    3 m 3.95 0.24 0.08 39.39 1.97    
    5 m 4.93 0.21 0.1 15.24 1.35    
    8 m 8.49 0.29 0.21 48.97 1.88   92.8  
    1y, 1 m 7.76 0.38 0.19 42.71 1.25   84.1  
  1. C3 Propionylcarnitine, C2 Acetylcarnitine, C0 Free carnitine, NBS Newborn screening, y Year, m Month, d Day, DQ Development quotient, ND Not determined, MRI Magnetic resonance imaging
  2. anormal range: 0.50–4.50 μmol/L
  3. bnormal range: 0.01–0.20
  4. cnormal range: 0.02–0.20
  5. dnormal range: 0.3–3.6 mmol/mol creatinine
  6. enormal range: 0.2–1.1 mmol/mol creatinine
  7. fnormal range: 0-15 μmol/L
  8. gTreatment was commenced on day 50