Table 1 Genetic testing of Case 1 and his parents
From: Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report
Gene | MMACHC | |
|---|---|---|
Chromosomal location | Chr1:45974647 | Chr1:45966084 |
Nucleotide | NM_015560. c.609(exon4)G > A | NM_015560. c.80(exon1)A > G |
Amino acid | NM_015560. p.W203X,80(p.Trp203stop,80) | NM_015560. p.Q27R(p.Gln27Arg) |
Maternal genotype | Wild type | Heterozygous |
Paternal genotype | Heterozygous | Wild type |
Diagnosis | Methylmalonic Acidemia and Homocystinuria (cblC type) | |