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. 2023 Jan 26;17:1110942. doi: 10.3389/fnins.2023.1110942

TABLE 1.

Clinical presentation of MMA patients of different ages.

Ages System Clinical presentation
Neonates
(0–28 days)
Nervous system Lethargy, apnoea
Muscular hypotonia
Seizures, neurocognitive impairment
Visual inattention or nystagmus
Hydrocephalus
Digestive system Poor feeding, vomiting
Blood circulation system Anemia/thrombocytopenia or pancytopenia
Megaloblastosis
Cardiomyopathy
Pulmonary hypertension
Urinary system Hemolytic uremic syndrome
Infants
(1–12 months)
Nervous system Developmental delay (learning disabilities, intellectual disability)
Acute encephalopathy
Visual and cognitive impairment
Microcephaly
Muscular hypotonia
Seizures
Visual inattention or nystagmus
Digestive system Anorexia
Failure to thrive
Blood circulation system Anemia/thrombocytopenia or pancytopenia
Megaloblastosis
Pulmonary hypertension
Urinary system Hemolytic uremic syndrome
Children
(1–12 years)
Nervous system Acute or chronic behavioral or psychiatric abnormalities
Acute encephalopathy
Movement disorders, dystonia, ataxia, limb weakness
Seizures, lethargy
Neuropsychiatric disturbance, personality changes
Visual impairment (maculopathy, optic atrophy, Peripheral retinopathy)
Sensory disturbance
Blood circulation System Pulmonary hypertension
Venous thrombosis, pulmonary thromboembolism
Hypertensive encephalopathy
Urinary system Hemolytic uremic syndrome
Kidney failure
Adolescence and adulthood
(>12years)
Nervous system Cognitive decline
Neuropsychiatric disturbance, personality changes, social withdrawal, depression
Decreased ability to study or work
Sensory disturbance, ataxia, limb weakness
Visual impairment or blindness
Blood circulation system Pulmonary hypertension
Venous thrombosis, pulmonary thromboembolism
Hypertensive encephalopathy
Urinary system Hemolytic uremic syndrome
Thrombotic microangiopathy
Kidney failure