Orphanet: Diagnï¿½ï¿½ï¿½stico de los errores congï¿½ï¿½ï¿½nitos raros del metabolismo panel

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Diagnosis of rare inborn errors of metabolism (panel)

Laboratorio de Metabolopatías
Complejo Hospitalario Universitario de Santiago
Calle Choupana s/n
15706 SANTIAGO DE COMPOSTELA
SPAIN
Director of laboratory : -
More information

Phone : 34 981950100
Additional Phone : -
Fax : -
Website

Last update: March 2020

Responsible of diagnostic test

Dr José COCHO DE JUAN

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 (179)

2-aminoadipic 2-oxoadipic aciduria

2-methylbutyryl-CoA dehydrogenase deficiency

3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

3-methylcrotonyl-CoA carboxylase deficiency

3-methylglutaconic aciduria type 1

3-methylglutaconic aciduria type 3

3-methylglutaconic aciduria type 8

6-pyruvoyl-tetrahydropterin synthase deficiency

Acute neonatal citrullinemia type I

Adenine phosphoribosyltransferase deficiency

Adenosine monophosphate deaminase deficiency

Adenylosuccinate lyase deficiency

Adult polyglucosan body disease

Argininosuccinic aciduria

Atypical glycine encephalopathy

Autosomal dominant dopa-responsive dystonia

Autosomal dominant optic atrophy and cataract

Beta-ketothiolase deficiency

Beta-ureidopropionase 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 glucose transporter type 1 deficiency syndrome

Classic homocystinuria

Classic maple syrup urine disease

Classic phenylketonuria

Combined malonic and methylmalonic acidemia

Congenital brain dysgenesis due to glutamine synthetase deficiency

Congenital glucokinase-related hyperinsulinism

Cystathioninuria

D-2-hydroxyglutaric aciduria

D-glyceric aciduria

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Dicarboxylic aminoaciduria

Dihydropteridine reductase deficiency

Dihydropyrimidine dehydrogenase deficiency

Dihydropyrimidinuria

Dilated cardiomyopathy with ataxia

Erythrocyte galactose epimerase deficiency

Ethylmalonic encephalopathy

Exercise-induced hyperinsulinism

Fanconi-Bickel syndrome

Fatal infantile lactic acidosis with methylmalonic aciduria

Formiminoglutamic aciduria

Fructose-1,6-bisphosphatase deficiency

Fumaric aciduria

GTP cyclohydrolase I deficiency

Galactokinase deficiency

Generalized galactose epimerase deficiency

Glucose-galactose malabsorption

Glutaryl-CoA dehydrogenase deficiency

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 Ia

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 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 glycogen phosphorylase deficiency

Glycogen storage disease due to muscle phosphorylase kinase deficiency

Gyrate atrophy of choroid and retina

HSD10 disease, atypical type

HSD10 disease, infantile type

HSD10 disease, neonatal type

Hartnup disease

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

Hemolytic anemia due to red cell pyruvate kinase deficiency

Hereditary folate malabsorption

Hereditary fructose intolerance

Hereditary hyperekplexia

Hereditary orotic aciduria

Holocarboxylase synthetase deficiency

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Hyperammonemia due to N-acetylglutamate synthase deficiency

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

Hypermethioninemia due to glycine N-methyltransferase deficiency

Hypermethioninemia encephalopathy due to adenosine kinase deficiency

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Hyperprolinemia type 1

Hyperprolinemia type 2

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

Iminoglycinuria

Infantile glycine encephalopathy

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

Late-onset citrullinemia type I

Lesch-Nyhan syndrome

Lethal ataxia with deafness and optic atrophy

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

MEGDEL syndrome

Malonic aciduria

Maternal phenylketonuria

Maternal riboflavin deficiency

Medium chain acyl-CoA dehydrogenase deficiency

Methionine adenosyltransferase I/III deficiency

Methylcobalamin deficiency type cblDv1

Methylcobalamin deficiency type cblE

Methylcobalamin deficiency type cblG

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

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

Mild hyperphenylalaninemia

Mild phenylketonuria

Mild phosphoribosylpyrophosphate synthetase superactivity

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 glycine encephalopathy

Neonatal intrahepatic cholestasis due to citrin deficiency

Ornithine transcarbamylase deficiency

Phosphoenolpyruvate carboxykinase deficiency

Primary hyperoxaluria type 1

Primary hyperoxaluria type 2

Primary hyperoxaluria type 3

Prolidase deficiency

Propionic acidemia

Pterin-4 alpha-carbinolamine dehydratase deficiency

Purine nucleoside phosphorylase deficiency

Pyruvate carboxylase deficiency, benign type

Pyruvate carboxylase deficiency, infantile type

Pyruvate carboxylase deficiency, severe neonatal type

Pyruvate dehydrogenase E3 deficiency

S-adenosylhomocysteine hydrolase deficiency

Saccharopinuria

Severe phosphoribosylpyrophosphate synthetase superactivity

Severe primary trimethylaminuria

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

Transcobalamin deficiency

Tyrosinemia type 1

Tyrosinemia type 2

Tyrosinemia type 3

Very long chain acyl-CoA dehydrogenase deficiency

Vitamin B12-responsive methylmalonic acidemia type cblA

Vitamin B12-responsive methylmalonic acidemia type cblB

Vitamin B12-responsive methylmalonic acidemia, type cblDv2

X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome

Xanthinuria type I

Xanthinuria type II

List of genes tested (including panels) (175)

Quality management

EQA

EQA scheme(s) organized by EMQN

PKU (Phenylketonuria)

2015

EQA scheme(s) organized by GenQA

Inborn Errors of Metabolism

2020, 2021

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