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

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

Group: 1) Complex molecules disorders, 2) Small molecules disorders, 3) Energy defect disorders