Diagnostic Overview – Assistance Publique-Hôpitaux de Paris- University Hospital Necker-Enfants Malades
Assistance Publique-Hôpitaux de Paris- University
Hospital Necker-Enfants Malades
Genetic and Basic Metabolic & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
1. Genetic testing overview
| No information was provided | |
| Contact Person |
| Tests that are being offered in this lab | |||
| Amino and organic acids disorders (AOA) | |||
| Fatty Acid Oxidation (FAO Disorders) | |||
| Lysosomal Storage Disorders (LSD) | |||
| Peroxisomal Disorders (PD) | |||
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |||
2. Basic metabolite and enzyme testing
| Assistance Publique-Hôpitaux de Paris- University Hospital Necker-Enfants Malades
Mixture of in-house and external laboratories: AMM: robert-debre (which will go to Necker) CDG: Bichat hospital Gal 1P and métabolites of tyrosinemia Bicetre all other Necker- Molecular and biochemical
|
Biochemistry |
| Contact person Dominique Prié
|
dominique.prie@aphp.fr |
| Metabolite Tests | |
| Type of Test | Name of |
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids qualitative |
| Amino acids quantitative | |
| Carnitine Total, Free | |
| Formiminoglutamic acid (FIGLU) | |
| Glycerate | |
| Glycolic Acid | |
| Homocitrulline (special assay) | |
| Organic acids qualitative | |
| Organic acids quantitative | |
| Orotic acid | |
| Oxalate | |
| S-Sulfocysteine | |
| Plasma
|
Amino acids quantitative |
| Acylcarnitine s | |
| Carnitine, free and total | |
| Methylmalonic acid (MMA) | |
| Organic acids profile | |
| Total homocysteine | |
| S-adenosylhomocysteine | |
| S-adenosylmethionine | |
| Dry Blood Spots | Amino-acids |
| CSF | Amino-acids |
| S-adenosylhomocysteine | |
| S-adenosylmethionine | |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine | Galactitol (special assay) |
| Polyols profiling | |
| Plasma | 3-OH-butyrate and acetoacetate, |
| Free fatty acids | |
| CSF | Sugars |
| Lysosomal Storage Disorders (LSD) | |
| Urine | Glycosaminoglycans qualitative (screening tests) |
| Glycosaminoglycans quantative | |
| L-Cystine | |
| Mucopolysaccharide electrophoresis/TLC | |
| Oligosaccharides/glycosaminoglycans by mass spectrometry | |
| Oligosaccharides TLC | |
| White blood cells | Cystines |
| Peroxisomal Disorders (PD) | |
| Plasma
|
Cholesterol |
| Phytanic acid | |
| Pristanic acid | |
| Very long chain fatty acids- VLCFA | |
| Erythrocytes | Plasmalogens |
| Extra: | Lasmalogen: we send to Pr levade (Toulouse) cholestanol and cholesterol métabolites: we send to la Pitie (Foufil Lamari) |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Extra | Send to Pr. Seta Bichat |
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine | Alpha-aminoadipic semialdehyde |
| L-Pipecolic acid | |
| Neurotransmitters | |
| Pterines | |
| Purines and pyrimidines | |
| Plasma | Purines and pyrimidines |
| CSF | 3-methoxytyrosine
|
| 5-methyltetrahydrofolate | |
| Neurotransmitters | |
| Alpha-aminoadipic semialdehyde | |
| N-acetylaspartylglutamic acid (NAAG) | |
| Pipecolic Acid | |
| Pterins | |
| Extra | Porphyries: Pr Puy
Copper: Pr Wolman , hospital ariboisiere
|
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |
| CSF | Pyruvate/lactate |
| Urine | Creatine |
| Creatinine | |
| Guanidinoacetate | |
| Plasma | Creatine |
| Guanidinoacetate | |
| Enzyme Tests | ||
| Type of Disease | Yes or No | |
| Amino and organic acids disorders (AOA) | ||
| Aminoacidopathies | Yes and metabolic flux
|
|
| Organic Acidurias | Yes, propionic aciduria (send MMA activity to Robert Debre but they will go to Necker in a few months) | |
| Urea cycle disorders | Yes, but not used | |
| Fatty Acid Oxidation (C-FAO Disorders) | ||
| Glycogen storage diseases
|
Yes, cpt2 and flux
|
|
| Carbohydrate diseases other than Glycogen storage diseases
|
No | |
| Fatty acid oxidation and carnitine transport disorders
|
Yes, cpt2 , flux, carnitine transport but we don’t use it a lot because of panel and metabolites and possibility of flux
|
|
| Disorders of Ketogenesis and Ketolysis | No (Lyon) | |
| Lysosomal Storage Disorders (LSD) | ||
| Mucopolysaccharidoses
|
No information provided | |
| Sphingolipidoses | No information provided | |
| Oligosaccharidosis | No information provided | |
| Mucolipidoses | No information provided | |
| Lysosomal glycogen storage disease (Pompe disease) | Yes, maltase acid
|
|
| Peroxisomal Disorders (PD) | ||
| Peroxisome biogenesis | No information provided | |
| Single peroxisomal enzyme deficiencies | No information provided | |
| Disorders of Cholesterol synthesis | No information provided | |
| Bile Acid Synthesis | No information provided | |
| Phospholipid and Glycosphingolipid Synthesis | No information provided | |
| 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 | Yes | |
| Porphyrias | No | |
| Disorders of Purine and pyrimidine metabolism | Yes | |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | ||
| Creatine metabolism | Yes | |
| Pyruvate dehydrogenase | No | |
| TCA-cycle enzymes | Yes | |
| Respiratory chain disorders | Yes | |
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