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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)

From: Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics

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
  1. Abbreviations: CPEO chronic progressive external ophthalmoplegia, HI/HA hyperinsulinism/hyperammoniemia, KSS Kearns-Sayre Syndrome, MELAS mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, MMA methylmalonic acidemia, OAT ornithine aminotransferase, X-ALD X-linked adrenoleucodystrophy
  2. Group: 1) Complex molecules disorders, 2) Small molecules disorders, 3) Energy defect disorders