Table 1 Genetic information of Menkes patients
From: Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells
Identification number | MD Case1 (MD1) | MD case2 (MD2) |
|---|---|---|
Gender | Male | Male |
Age at diagnosis | 4 months | 36 days |
Genotype | c.4005 + 5G > A of ATP7A (Splice site mutation) | c.121-930_2626 + 488del of ATP7A (Large deletion) |
Protein | Exon 20 deletion | Exon 3–12 deletion |
Manifestations | Lethargy | Diffuse cerebral dysfunction |
Seizure | Developmental delay | |
Hypotonia | Hypotonia | |
Hypsarrhythmic pattern on EEG | Elongated tortuos intracranial vessels | |
Elongated tortuos intracranial vessels | Brittle hair & loose skin | |
Brittle hair & loose skin | ||
Copper (68–168 μg/dl) | 17 | 8 |
Initial ceruloplasmin (13.1–42.8 mg/dl) | 4.6 | <3 |
Current outcomes | Death (4.7 years) | Bed ridden (2.6 years) |