Table 3 Sociodemographic, biochemical, enzymatic, genetic and clinical information on 88 patients with MCC deficiency 8 individuals identified by family screening (asymptomatic individuals (n = 3), symptomatic individuals (n = 3), no clinical data (n = 2))
Pt # | Sex | Ethnic origin | Age at diagnosis | Current age (y) | Biochemical phenotype | Carboxylase activities in fibroblasts (pmol/min/ mg protein)1 | Genotype | Clinical phenotype§ | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DBS/ plasma | urine | affected gene | Nucleotide change (at RNA level) | Amino acid change (predicted from RNA) | |||||||||
C5OH | 3-HIVA | 3MCG | MCC | PCC | Allele 1 Allele 2 | ||||||||
32b | m | Arab | 17 years | 28 | ++ | ++ | ++ | 5.3 | 409 | na | na | na | asymptomatic (fr) |
93a | m | Caucasian | 4 years | 12 | ++ | + | + | 19.0 | 402 | MCCC1 | c.558delA | p.Q186Hfs*6 | asymptomatic (ltf) |
c.558delA | p.Q186Hfs*6 | ||||||||||||
99b | f | Turkish | 5.5 years | 8 | ++ | ++ | ++ | na | na | na | na | na | asymptomatic (fr) |
70b | m | Caucasian | 3.5 years | 10 | + | + | ++ | na | na | na | na | na | speech retardation, muscle weakness, hyperactivity, refusal of meat (fr) |
96c | m | Turkish | 3 years | 8 | ++ | ++ | ++ | na | na | MCCC1 | c.873+4524_ 6787del2264 | large deletion | mild speech retardation, macrocephaly (ltf) |
c.873+4524_ 6787del2264 | large deletion | ||||||||||||
35b | f | Caucasian | 18 months | 18 | na | ++ | ++ | na | na | na | na | na | psychomotor retardation (by 2 years developmental age of 10 months), failure to thrive, hypothermia and ketonuria prior to stabilisation on dietary therapy (ltf, 1.75y) |
52b | m | Turkish | ? | ? | na | na | na | na | na | MCCC2 | c.803G>C | p.R268T | ? |
(r.785_803del) | (p.G262_ R268delfs*5) | ||||||||||||
c.803G>C | p.R268T | ||||||||||||
(r.785_803del) | (p.G262_ R268delfs*5) | ||||||||||||
52c | m | Turkish | ? | ? | na | na | na | na | na | MCCC2 | c.803G>C | p.R268T | ? |
(r.785_803del) | (p.G262_ R268delfs*5) | ||||||||||||
c.803G>C | p.R268T | ||||||||||||
(r.785_803del) | (p.G262_ R268delfs*5) | ||||||||||||