Table 1 Presenting symptoms and signs in the different disorders detected among the studied patients according to age groups
From: Inherited metabolic disorders in a cohort of Egyptian children
Defect | Presenting symptoms and signs | |
|---|---|---|
Organic acidemia | ||
  GA | 0-3m | Macrocephaly is one of the earliest signs |
>3m | acute encephalopathic crises, dystonia, dyskinesis | |
  PPA | 0-3m | poor feeding, vomiting, |
>3m | Convulsions, and intermittent sepsis-like hypotonia,coma | |
  MMA | 0-3m | Vomiting, loss of muscle tone, dehydration |
>3m | intractable seizure, developmental delay, tachypnea and respiratory failure, intermittent sepsis-like symptoms | |
  IVA | 0-3m | poor feeding, vomiting, seizures, and lack of energy (lethargy). distinctive odor of sweaty feet during acute illness |
>3m | Persistent vomiting and diarrhea, hypotonia, attention deficit,epilepsy, Poor feeding,seizures, developmental delay sepsis-like symptoms | |
  MCG | 0-3m | feeding difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness (lethargy), and weak muscle tone (hypotonia) |
>3m | hypotonia, microcephaly, spastic paraplegia delayed development, seizures, and coma. | |
  OA | 0-3m | lethargy, failure to thrive, recurrent vomiting, acidosis, dehydration |
>3m | Seizures, encephalopathy, poor feeding | |
Amino Acidopathies | ||
  PKU | 0-3m | may appear normal for the first few months of their life |
>3m | Microcephaly, seizures, fair complexion, global developmental delay Poor feeding, lethargy, attention deficits sepsis-like symptoms | |
  MSUD | 0-3m | Sepsis like symptoms (poor feeding, poor activity and poor crying) |
>3m | vomiting,diarrhea, convulsions, coma, respiratory failure | |
  Homocysin uria |  | Symptoms generally develop during the first years of life including mental subnormality, thromboembolic events |
  Nonketotic hyperglycinemia | 0-3m | the first week of life with low muscle tone, lethargy, seizures, coma, and apnea requiring ventilator support |
>3m | Coma, hypoglycemia, difficulty in gaining weight, severe cortical brain atrophy on brain MRI | |
Fatty acids Oxidation defects | Early : hypoketotic hypoglycemia; coma triggered by fasting or catabolism, Reye Syndrome–like episodes, cardiomyopathy, and symptoms of acute myolysis | |
Late : Rhabdomyolysis, hypotonia | ||
Lactic Acidosis | Hypotonia, seizures Coma, respiratory failure | |