Diagnostic Overview – University Hospital Center Zagreb
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Genetic and Basic Metabolites & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
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| Contact person
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| CLINICAL HOSPITAL CENTRE ZAGREB
For enzyme testing both in-house and external laboratory
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https://www.kbc-zagreb.hr/strani-drzavljani/ |
| Contact person K. Fumic
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kfumic@kbc-zagreb.hr
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| Amino and organic acids disorders (AOA) | |||
Metabolite Tests |
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| Type of Test | Name of Test
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| Urine | Amino acids qualitative | ||
| Amino acids quantitative | |||
| Carnitine, total, free | |||
| Organic acids qualitative | |||
| Orotic acid | |||
| Oxalate | |||
| Succinylacetone | |||
| Sulfite test | |||
| Plasma
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Amino acids quantitative
Acylcarnitines Carnitine, free and total Methylmalonic acid (MMA) Oxalic acid S-adenosylhomocysteine S-adenosylmethionine Total homocysteine |
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| Dry blood spots | Acylcarnitines | ||
| Amino Acids | |||
| CSF | Aminoacids | ||
| S-adenosylhomocysteine
S-adenosylmethionine |
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| Fatty Acid Oxidation (C-FAO Disorders) | |||
| Urine | Reducing substances
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| Sugars qualitative | |||
| Plasma | 3-OH-butyrate and acetoacetate
Free fatty acids Galactose
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| Lysosomal Storage Disorders (LSD) | |||
| Urine
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Glycosaminoglycans qualitative (screening tests)
Glycosaminoglycans quantitive L-Cystine Mucopolysaccharide electrophoresis/TLC Oligosaccharides TLC Sialyloligosaccharides TLC |
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| Plasm | Chitotriosidase
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| Peroxisomal Disorders (PD) | |||
| Plasma
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Very long chain fatty acids- VLCFA | ||
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |||
| Plasma, N-Glycosylation | Capillary electrophoresis
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| Disorders of Neuromodulators and other small Molecules (NOMS) | |||
| Urine
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Porphyrins and porphyrin precursors,
U-Copper (24h),
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| Plasma | p-Copper,
p-Ceruloplasmin |
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| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |||
| CSF
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Pyruvate/lactate
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Enzyme Tests |
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| Type of Disease | Yes or No | |
| Amino and organic acids disorders (AOA) | ||
| Organic Acidurias | No | |
| Aminoacidopathies | No | |
| Urea cycle disorders | No | |
| Fatty Acid Oxidation (C-FAO Disorders) | ||
| Glycogen storage diseases
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Yes | |
| Carbohydrate diseases other than Glycogen storage diseases
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No | |
| Fatty acid oxidation and carnitine transport disorders
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No | |
| Disorders of Ketogenesis and Ketolysis
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No | |
| Lysosomal Storage Disorders (LSD) | ||
| Mucopolysaccharidoses
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– | |
| Sphingolipidoses | – | |
| Oligosaccharidosis | – | |
| Mucolipidoses | – | |
| Lysosomal glycogen storage disease (Pompe disease) | – | |
| Peroxisomal Disorders (PD) | ||
| Peroxisome biogenesis | No
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| Single peroxisomal enzyme deficiencies | No
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| Disorders of Cholesterol synthesis | No | |
| Bile Acid Synthesis | No
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| Phospholipid and Glycosphingolipid Synthesis | No
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| 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 | – | |
| Pyruvate dehydrogenase | No | |
| TCA-cycle enzymes | No | |
| Respiratory chain disorders | No | |
Copyright ©2017-2021 all rights reserved