Diagnostic Overview – University Hospital of Padova
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| Hôpital Antoine Béclère, Service de Pédiatrie – AP-HP
|
Division of Inherited Metabolic Diseases Reference Centre Expanded Newborn Screening |
| Contact Person Alberto Burlina
In-house metabolic lab (IH)
|
segremet@aopd.veneto.it |
| Metabolite Tests | |
| Type of Test | Name of |
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids quantitative |
| Amino acids qualitative | |
| Carnitine Total, Free | |
| Glycerate | |
| Homocitrulline (special assay) | |
| Organic acids qualitative | |
| Organic acids quantitative | |
| Orotic acid | |
| Oxalate | |
| Succinylacetone | |
| Sulfite test | |
| Plasma
|
Acylcarnitines |
| Carnitine, free and total | |
| Methylmalonic acid (MMA) | |
| Organic Acids profile | |
| Total homocysteine | |
| Succinylacetone | |
| Dry Blood Spots | Aminoacids |
| Acylcarnitines | |
| Total homocysteine | |
| Methylmalonic acid | |
| CSF | Aminoacids |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Plasma | 3-OH-butyrate and acetoacetate |
| Dry Blood Spots | Gal and Gal-1P semiquantitative |
| Lysosomal Storage Disorders (LSD) | |
| Urine | Glycosaminoglycans quantitative |
| Oligosaccharides TLC | |
| Oligosaccharides/glycosaminoglycans by mass spectrometry | |
| Plasma | Glycosylsphingosine |
| Lyso-Gb3 | |
| Glucosylceramide | |
| Hexosylsphingosine (LysoGL1) | |
| Peroxisomal Disorders (PD) | |
| Plasma | 7-Dehydrocholesterol |
| 7-Ketocholesterol | |
| Cholestane-3?,5?,6?-triol | |
| Phytanic acid | |
| Pristanic acid | |
| Very long chain fatty acids- VLCFA | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Plasma | N-Glycosylation: Capillary electrophoresis |
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine | Alpha-aminoadipic semialdehyde |
| L-Pipecolic acid | |
| Pterines | |
| Purines and pyrimidines | |
| Plasma | Alpha-aminoadipic semialdehyde |
| CSF | 3-methoxytyrosine |
| Alpha-aminoadipic semialdehyde | |
| 5-methyltetrahydrofolate | |
| N-acetylaspartylglutamic acid (NAAG) | |
| Neurotransmitters | |
| Pipecolic acid | |
| Pterins | |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |
| Urine | Creatine |
| Creatinine | |
| Guanidinoacetate | |
| Plasma | Creatine |
| Guanidinoacetate | |
| Enzyme Tests | ||
| Type of Disease | Yes or No | |
| Amino and organic acids disorders (AOA) | ||
| Aminoacidopathies | No | |
| Organic Acidurias | No | |
| Urea cycle disorders | No | |
| Fatty Acid Oxidation (C-FAO Disorders) | ||
| Glycogen storage diseases |
No
|
|
| Carbohydrate diseases other than Glycogen storage diseases |
No | |
| Fatty acid oxidation and carnitine transport disorders |
Yes | |
| Disorders of Ketogenesis and Ketolysis | No | |
| Lysosomal Storage Disorders (LSD) | ||
| Mucopolysaccharidoses
|
Yes | |
| Sphingolipidoses | Yes | |
| Oligosaccharidosis | Yes | |
| Mucolipidoses | Yes | |
| Lysosomal glycogen storage disease (Pompe disease) | Yes | |
| Peroxisomal Disorders (PD) | ||
| Peroxisome biogenesis | Yes | |
| Single peroxisomal enzyme deficiencies | Yes | |
| Disorders of Cholesterol synthesis | Yes | |
| Bile Acid Synthesis | No | |
| Phospholipid and Glycosphingolipid Synthesis | Yes | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | ||
| N-glycosylation disorders | No | |
| O-glycosylation disorders | No | |
| Disorders of Neuromodulators and other small Molecules (NOMS) | ||
| Neurotransmitter disorders | No | |
| Porphyrias | No
|
|
| Disorders of Purine and pyrimidine metabolism | No | |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | ||
| Creatine metabolism | No | |
| Pyruvate dehydrogenase | No | |
| TCA-cycle enzymes | No | |
| Respiratory chain disorders | No | |
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