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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)