Orphanet: Diagnostic des maladies hï¿½ï¿½ï¿½rï¿½ï¿½ï¿½ditaires du mï¿½ï¿½ï¿½tabolisme intermï¿½ï¿½ï¿½diaire Panel

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Diagnosis of hereditary intermediate metabolic diseases (Panel)

Biochimie/ Plateau technique de Biologie Moléculaire
Pôle Biologie et Pathologie
CHU de Bordeaux-GH Pellegrin
Place Amélie Raba-Léon
33076 BORDEAUX CEDEX
FRANCE
Director of laboratory : Pr Emmanuel RICHARD
More information

Phone : 33 (0)5 56 79 59 91
Additional Phone : -
Fax : 33 (0)5 56 79 56 73
Contact
email

Last update: November 2022

Responsible of diagnostic test

Dr Louis LEBRETON

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (166)

3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

3-methylcrotonyl-CoA carboxylase deficiency

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

3-phosphoserine phosphatase deficiency, infantile/juvenile form

5-oxoprolinase deficiency

6-pyruvoyl-tetrahydropterin synthase deficiency

Acute neonatal citrullinemia type I

Acyl-CoA dehydrogenase 9 deficiency

Argininosuccinic aciduria

Beta-ketothiolase deficiency

Biotinidase deficiency

Carbamoyl-phosphate synthetase 1 deficiency

Carnitine palmitoyl transferase 1A deficiency

Carnitine palmitoyl transferase II deficiency, myopathic form

Carnitine palmitoyl transferase II deficiency, neonatal form

Carnitine palmitoyl transferase II deficiency, severe infantile form

Carnitine-acylcarnitine translocase deficiency

Citrullinemia type II

Classic galactosemia

Classic homocystinuria

Classic maple syrup urine disease

Classic phenylketonuria

Congenital brain dysgenesis due to glutamine synthetase deficiency

Congenital intrinsic factor deficiency

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Constitutional megaloblastic anemia with severe neurologic disease

Cystathioninuria

D-2-hydroxyglutaric aciduria

D-glyceric aciduria

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Dihydropteridine reductase deficiency

Dimethylglycine dehydrogenase deficiency

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Erythrocyte galactose epimerase deficiency

Ethylmalonic encephalopathy

Fanconi-Bickel syndrome

Formiminoglutamic aciduria

Fructose-1,6-bisphosphatase deficiency

Fumaric aciduria

Galactokinase deficiency

Generalized galactose epimerase deficiency

Glutaryl-CoA dehydrogenase deficiency

Glutathione synthetase deficiency with 5-oxoprolinuria

Glutathione synthetase deficiency without 5-oxoprolinuria

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogen storage disease due to acid maltase deficiency, late-onset

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

Glycogen storage disease due to glycogen debranching enzyme deficiency

Glycogen storage disease due to hepatic glycogen synthase deficiency

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

Glycogen storage disease due to liver glycogen phosphorylase deficiency

Glycogen storage disease due to liver phosphorylase kinase deficiency

Glycogen storage disease due to muscle and heart glycogen synthase deficiency

Glycogen storage disease due to muscle beta-enolase deficiency

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Glycogen storage disease due to muscle phosphofructokinase deficiency

Glycogen storage disease due to muscle phosphorylase kinase deficiency

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Glycogen storage disease due to phosphoglycerate mutase deficiency

Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

Guanidinoacetate methyltransferase deficiency

Gyrate atrophy of choroid and retina

HSD10 disease, atypical type

HSD10 disease, infantile type

HSD10 disease, neonatal type

Hereditary fructose intolerance

Holocarboxylase synthetase deficiency

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Hyperammonemia due to N-acetylglutamate synthase deficiency

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Hyperinsulinism-hyperammonemia syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Hyperprolinemia type 1

Hyperprolinemia type 2

Imerslund-Gräsbeck syndrome

Iminoglycinuria

Intermediate maple syrup urine disease

Intermittent maple syrup urine disease

Isolated sulfite oxidase deficiency

Isovaleric acidemia

Ketoacidosis due to monocarboxylate transporter-1 deficiency

L-2-hydroxyglutaric aciduria

L-Arginine:glycine amidinotransferase deficiency

Late-onset citrullinemia type I

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Lysinuric protein intolerance

Maternal phenylketonuria

Maternal riboflavin deficiency

Medium chain acyl-CoA dehydrogenase deficiency

Metabolic myopathy due to lactate transporter defect

Methionine adenosyltransferase I/III deficiency

Methylcobalamin deficiency type cblDv1

Methylcobalamin deficiency type cblE

Methylcobalamin deficiency type cblG

Methylmalonic acidemia with homocystinuria type cblF

Methylmalonic acidemia with homocystinuria, type cblC

Methylmalonic acidemia with homocystinuria, type cblD

Methylmalonic acidemia with homocystinuria, type cblJ

Methylmalonic acidemia with homocystinuria, type cblX

Methylmalonic aciduria due to transcobalamin receptor defect

Mevalonic aciduria

Mild hyperphenylalaninemia

Mild phenylketonuria

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Mitochondrial trifunctional protein deficiency

Multiple acyl-CoA dehydrogenase deficiency, mild type

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

Neonatal intrahepatic cholestasis due to citrin deficiency

Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency

Neurodegenerative syndrome due to cerebral folate transport deficiency

Neurological conditions associated with aminoacylase 1 deficiency

Ornithine transcarbamylase deficiency

Oxoglutaric aciduria

Phosphoserine aminotransferase deficiency, infantile/juvenile form

Prolidase deficiency

Propionic acidemia

Pyridoxine-dependent epilepsy

Pyruvate carboxylase deficiency, benign type

Pyruvate carboxylase deficiency, infantile type

Pyruvate carboxylase deficiency, severe neonatal type

Pyruvate dehydrogenase E1-alpha deficiency

Pyruvate dehydrogenase E1-beta deficiency

Pyruvate dehydrogenase E2 deficiency

Pyruvate dehydrogenase E3 deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

Pyruvate dehydrogenase phosphatase deficiency

RFVT2-related riboflavin transporter deficiency

RFVT3-related riboflavin transporter deficiency

Ribose-5-P isomerase deficiency

S-adenosylhomocysteine hydrolase deficiency

Short chain acyl-CoA dehydrogenase deficiency

Succinic semialdehyde dehydrogenase deficiency

Succinyl-CoA:3-oxoacid CoA transferase deficiency

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Systemic primary carnitine deficiency

Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria

Thiamine-responsive maple syrup urine disease

Transaldolase deficiency

Transcobalamin deficiency

Tyrosinemia type 2

Tyrosinemia type 3

Very long chain acyl-CoA dehydrogenase deficiency

Vitamin B12-responsive methylmalonic acidemia, type cblDv2

Vitamin B12-unresponsive methylmalonic acidemia type mut-

Vitamin B12-unresponsive methylmalonic acidemia type mut0

X-linked creatine transporter deficiency

List of genes tested (including panels) (195)

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