Table 2 Characteristics of the complications related to the underlying inherited metabolic diseases arising during the time of the study (total number of patients, N = 64)
Acute Metabolic decompensation (N = 12) | |||
Group | Disease | Description | Number (N) |
2 | Urea cycle disorders | Hyperammoniemia | 4 |
2 | Leucinosis (Maple syrup urine disease) | Encephalopathy with hyperleucinosis and Hyperammoniemia | 1 |
2 | Fructose-1,6-diphosphatase deficiency | Hypoglycemia | 1 |
2 | Classical homocystinuria | Hyperhomocysteinemia | 4 |
3 | HI/HA syndrome | Hypoglycemia and hyperammoniemia | 1 |
3 | Carnitine palmitoyltransferase 2 | Rhabdomyolysis | 1 |
Novel complications (N = 8) | |||
Group | Disease | Description | |
1 | Pompe disease | Dysphagia | 1 |
1 | X-ALD | Myeloneuropathy | 1 |
2 | Arginosuccinic aciduria | Dilated left ventricule | 1 |
2 | Fructose-1,6-diphosphatase deficiency | Hepatomegaly | 1 |
2 | Galactosemia | Osteopenia | 1 |
2 | Biotinidase deficiency | Distal motor involvement | 1 |
3 | Kearns-Sayre syndrome | Heart bifascicular block | 1 |
3 | Leigh syndrome | Epilepsy | 1 |
Worsening of pre-existing complication (N = 44) | |||
Group | Disease | Description | |
1 | Gaucher disease type I | Fatigue | 1 |
1 | Niemann-Pick type B | Restrictive lung disease, liver cirrhosis, portal hypertension, splenomegaly | 4 |
1 | Mucopolysaccharidosis type IVA | Tracheal stenosis | 1 |
1 | Mucopolysaccharidosis type II | Repetitive urinary tract and respiratory infection | 1 |
2 | Hereditary fructose intolerance | Liver steatosis | 1 |
2 | Vitamin B12 unresponsive MMA | Dystonia, kidney failure post transplant | 2 |
2 | Acute intermittent porphyria | Depression | 1 |
2 | Wilson disease | Dystonia, cirrhosis, depression | 4 |
2 | Mild hyperphenylalaninemia | Behavioral disorders | |
2 | Classical galactosemi | Primary ovary insufficiency, optic atrophy, anxiety, osteopenia | 5 |
2 | Phenylketonuria | Epilepsy | 2 |
2 | Classic homocystinuria | Kidney failure, short bowel syndrome, osteoporosis | 4 |
2 | OAT deficiency | Gyrate atrophy | 1 |
2 | Leucinosis | Spastic diplegia | 1 |
2 | Cobalamin A deficiency | Kidney failure | 1 |
2 | Cobalamin C deficiency | Left ventricular dysfunction, mild mental retardation, bilateral retinopathy | 2 |
2 | Lesh-Nyhan syndrome | Gastro-intestinal intolerance | 1 |
3 | CPEO | Balance problems, myopathy, palpebral ptosis | 4 |
3 | MELAS | Cardiomyopathy, diabetes, kidney failure | 3 |
3 | Mitochondrial complex III deficiency | Fanconi syndrome | 1 |
3 | Ovario leucodystrophy related to AARS2 mutation | Cognitive decline, myopathy | 1 |
3 | Glycogen storage disease type 3 | Myalgia | 2 |
3 | KSS | Diabetes | 1 |