Diagnostic Overview – Hôpital Antoine Béclère, Service de Pédiatrie – AP-HP
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This HCP participates in the ERNDIM Quality Assessment scheme (2019)
| No information was provided |
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Available molecular techniques:
No information was provided
| 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) | |||
| Hôpital Antoine Béclère, Service de Pédiatrie – AP-HP
|
Biochimie robert debré
|
| Contact Person Jean François Benoist
In-house metabolic lab (IH)
|
biochimie.rdb@aphp.fr |
Metabolite Tests |
|
| Type of Test | Name of |
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids quantitative |
| Amino acids qualitative | |
| Carnitine Total, Free | |
| Formiminoglutamic acid (FIGLU) | |
| Organic acids qualitative | |
| Organic acids quantitative | |
| Orotic acid | |
| Oxalate | |
| Succinylacetone | |
| Sulfite test | |
| Plasma
|
Amino acids quantitative |
| Acylcarnitines | |
| Carnitine, free and total | |
| Methylmalonic acid (MMA) | |
| Organic Acids profile | |
| Succinylacetone | |
| Total homocysteine | |
| Succinylacetone | |
| S-adenosylhomocysteine | |
| S-adenosylmethionine | |
| CSF | Aminoacids |
| S-adenosylhomocysteine | |
| S-adenosylmethionine
|
|
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Plasma | 3-OH-butyrate and acetoacetate |
| Free fatty acids | |
| CSF | Sugars |
| Lysosomal Storage Disorders (LSD) | |
| White blood cells | Cystine |
| CSF | Sialic acid |
| Peroxisomal Disorders (PD) | |
| No information was provided | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Plasma
|
N-Glycosylation: Mass spectometry |
| N-Glycosylation: Capillary electrophoresis | |
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| No information provided | |
| 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
|
| Guanidinoacetate | |
| CSF | Pyruvate/lactate |
Enzyme Tests |
||
| Type of Disease | Yes or No | |
| Amino and organic acids disorders (AOA) | ||
| Aminoacidopathies | – | |
| Organic Acidurias | – | |
| Urea cycle disorders | – | |
| Fatty Acid Oxidation (C-FAO Disorders) | ||
| Glycogen storage diseases
|
– | |
| Carbohydrate diseases other than Glycogen storage diseases
|
– | |
| Fatty acid oxidation and carnitine transport disorders
|
Yes | |
| Disorders of Ketogenesis and Ketolysis | Yes | |
| Lysosomal Storage Disorders (LSD) | ||
| Mucopolysaccharidoses
|
– | |
| Sphingolipidoses | – | |
| Oligosaccharidosis | – | |
| Mucolipidoses | – | |
| Lysosomal glycogen storage disease (Pompe disease) | – | |
| Peroxisomal Disorders (PD) | ||
| Peroxisome biogenesis | Yes | |
| Single peroxisomal enzyme deficiencies | No | |
| Disorders of Cholesterol synthesis | No | |
| Bile Acid Synthesis | No | |
| Phospholipid and Glycosphingolipid Synthesis | No | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | ||
| N-glycosylation disorders | Yes | |
| O-glycosylation disorders | Yes | |
| 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 | Yes | |
| Pyruvate dehydrogenase | Yes | |
| TCA-cycle enzymes | Yes | |
| Respiratory chain disorders | Yes | |
Copyright ©2017-2021 all rights reserved