Liver |
Adenoma growth |
GSD I |
|
Impaired function |
Hepatic GSDs, Wilson disease |
Cardiac |
Valvular disease |
Mucopolysaccharidoses / mucolipidoses |
|
Impaired ventricular function |
Fabry disease, GSD III, mucopolysaccharidoses / mucolipidoses |
|
Dysrhythmia |
Fabry disease, carnitinine transporter deficiency, propionic acidemia |
Respiratory |
Disordered sleep breathing |
Acid maltase deficiency, mucopolysaccharidoses / mucolipidoses, muscle GSDs |
|
Thoracic deformities |
Mucopolysaccharidoses / mucolipidoses |
|
Narrowed airways – difficult intubation |
Mucopolysaccharidoses / mucolipidoses |
Orthopaedic |
Pelvic / hip / knee involvement |
Mucopolysaccharidoses / mucolipidoses / x-linked hypophosphatemia |
|
Ligamentous laxity |
Mucopolysaccharidoses / mucolipidoses |
|
Spinal involvement / fusion |
Mucopolysaccharidoses / mucolipidoses |
Endocrine |
Thyroid dysfunction |
Mitochondrial disorders |
|
Diabetes |
Mitochondrial disorders |
Lipid |
Hypertriglyceridemia / pancreatitis |
Lipoprotein lipase deficiency |
Renal |
Proteinuria |
GSD I, Fabry disease |
|
Impaired renal function |
GSD I, Fabry disease |
Muscle |
Weakness |
Acid maltase deficiency, mitochondrial disorders, some fatty acid oxidation disorders |
|
Risk of rhabdomyolysis |
Fatty acid oxidation disorders |
Coagulation |
Increased thrombotic risk |
Any condition associated with hyperhomocystinemia, e.g. HCU |
|
Post-partum bleeding |
GSD I |
Intellectual |
Ability to adher to treatment recommendations and care for child |
Any metabolic condition associated with severe childhood decompensation (e.g. hyperammonemia, hypoglycemia, encephalopathy) leading to fixed intellectual impairment or progressive neurodegeneration |
Medications |
Potential impact if medication stopped |
In particular for management of epilepsy, hypertension, dyslipidemia |