Skip to main content

Table 1 Overview of diagnoses of children with metabolic diseases (n = 29)

From: Challenges of palliative care in children with inborn metabolic diseases

Lysosomal storage diseases
Sphingolipidoses
• Canavan disease 1
• Krabbe disease 1
• Other 2
Sulfatidoses
• Metachromatic leukodystrophy 3
Gangliosidoses
• GM2 Gangliosidosis (Tay-Sachs disease) 1
 Alexander disease 2
 Mucopolysaccharidoses 2
Neuronal ceroid lipofuscinosis 2
Fatty acid disorders
• Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency *1
Glycine metabolism disorders
• Hyperglycinemia, nonketotic 2
Mitochondrial diseases
• Pearson syndrome *2
• Leigh syndrome *2
EARS2 mutation *1
TMEM70 mutation *1
• etiology unknown *4
Methionine metabolism disorders
• Sulfite oxidase deficiency *1
Cofactor deficiency disorders
• Molybdenum cofactor deficiency *1
  1. Those diseases, which can present with metabolic crises are marked with an asterisk