Childhood Degenerative & Metabolic Disorders

Browse Articles, recent Forum and News posts, Patient Handouts, External Resources, and Featured Images and Videos concerned with childhood degenerative and metabolic disorders.

In the Spotlight

Disorders of peroxisome assembly and function
Globoid cell leukodystrophy
Lesch-Nyhan disease
Maple syrup urine disease
Neurocutaneous syndromes
Neurodegeneration with brain iron accumulation
Wilson disease

White Matter Degenerative Disorders

Aicardi syndrome
Aicardi-Goutieres syndrome
Alexander disease
Canavan disease
Cerebrotendinous xanthomatosis
Childhood ataxia with central nervous system hypomyelination
Cockayne syndrome
Globoid cell leukodystrophy
Pelizaeus-Merzbacher disease
Refsum disease
Sjogren-Larsson syndrome
White matter abnormalities in the brain

Gray Matter Degenerative Disorders

Batten disease
Fabry disease
Farber disease
Gaucher disease
GM1 gangliosidosis
GM2 gangliosidoses
Mucolipidosis II alpha/beta and mucolipidosis III alpha/beta
Niemann-Pick disease type C
Niemann-Pick disease types A and B
Wolman disease

Aminoacidopathies Due to Enzyme Deficiencies

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
Abnormalities of tetrahydrobiopterin metabolism
Aminoacylase 1 deficiency
Biotin holocarboxylase synthetase deficiency
Biotinidase deficiency
Hepatorenal tyrosinemia
Homocystinuria due to cystathionine beta-synthase deficiency
Isovaleric acidemia
Maple syrup urine disease
Nonketotic hyperglycinemia


Cerebrotendinous xanthomatosis
Fabry disease
Farber disease
Gaucher disease
Globoid cell leukodystrophy
Niemann-Pick disease type C
Niemann-Pick disease types A and B
Wolman disease

Mitochondrial Metabolism Disorders

Complex II deficiency
Epilepsy in mitochondrial disorders
Kearns-Sayre syndrome
Leigh syndrome
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Myoclonus epilepsy with ragged-red fibers
POLG-related disorders

Related & Other Topics

2-Hydroxyglutaric acidurias
Adenylosuccinate lyase deficiency
Aicardi syndrome
Aicardi-Goutieres syndrome
Alpha-ketoglutarate dehydrogenase deficiency
Argininosuccinic acidemia
Aromatic L-amino acid decarboxylase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoyltransferase 1A deficiency
Carnitine palmitoyltransferase II deficiency
Carnitine-acylcarnitine translocase deficiency
Cerebral folate deficiency
Citrullinemias types 1 and 2
Congenital disorders of glycosylation
Dopamine beta-hydroxylase deficiency
Ethylmalonic encephalopathy and SCAD deficiency
Folate deficiency
Fumarase deficiency
GABA-transaminase deficiency
Glucose transporter type 1 deficiency
Glutaric aciduria
Glutathione synthetase deficiency
HHH syndrome
HMG-CoA lyase deficiency
Hyperammonemia not caused by liver failure
Infantile neuroaxonal dystrophy
Isolated beta-methylcrotonyl-CoA carboxylase deficiency
Ketogenic diet in the treatment of epilepsy
Long-chain fatty acid oxidation defects
Medium-chain acyl-CoA dehydrogenase deficiency
Menkes disease and other ATP7A-related disorders
Methylmalonic acidemia
Mevalonate kinase deficiency
Monoamine oxidase deficiency
Multiple acyl-CoA dehydrogenase deficiency
N-acetylglutamate synthase deficiency
Ornithine transcarbamylase deficiency
Pontocerebellar hypoplasia
Primary carnitine transporter deficiency
Propionyl-CoA carboxylase deficiency
Pyruvate carboxylase deficiency
Single enzyme defects of peroxisomal beta-oxidation
Sleep and cerebral degenerative disorders
Sleep and dementia
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tyrosine hydroxylase deficiency

Treatment Information


Interact with your peers.


See what's being published in neurology and the neurosciences.

New brain disorder discovery
Mar 23, 2020
A study has uncovered a new neurodegenerative disorder in which children experience developmental regression and severe epilepsy.
Researchers identify a new leukodystrophy in children and its potential cure
Jan 10, 2019
The gene that causes the disease is called DEGS1 and its defect may be counteracted with fingolimod, a drug currently used to treat multiple sclerosis.
View All

Patient Handouts

Print or email information for your patients when needed.

Acid maltase deficiency
Batten disease
Enfermedad de Batten (Spanish)
Enfermedades por almacenamiento de lĂ­pidos (Spanish)
Lipid storage diseases
Maple syrup urine disease
Maple syrup urine disease (Spanish)
Zellweger syndrome


Other External Resources

Explore other relevant websites. Close the window to return to MedLink.

Clinical Trials

Featured Images and Videos

Learn from examples.

MRI of Globoid cell leukodystrophy in a child
Zellweger syndrome in child