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
Globoid cell leukodystrophy
Lesch-Nyhan disease
Maple syrup urine disease
Neurocutaneous syndromes
Wilson disease

White Matter Degenerative Disorders

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

Gray Matter Degenerative Disorders

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

Aminoacidopathies Due to Enzyme Deficiencies

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
3-alpha-methylcrotonylglycinuria
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
Phenylketonuria

Glycoproteinoses

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

Mitochondrial Metabolism Disorders

3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Complex II deficiency
Epilepsy in mitochondrial disorders
Kearns-Sayre syndrome
Leigh syndrome
MELAS
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
Carbamyl phosphate synthetase I deficiency
Carnitine palmitoyltransferase 1A deficiency
Carnitine palmitoyltransferase II deficiency
Carnitine-acylcarnitine translocase deficiency
Cerebral folate deficiency
Chondrodystrophies
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
Galactosemia
Glucose transporter type 1 deficiency
Glutaric aciduria
Glutathione synthetase deficiency
HHH syndrome
HMG-CoA lyase deficiency
Hyperammonemia not caused by liver failure
Hyperargininemia
Hyperornithinemia
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
PEHO
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

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News

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Metformin as a potential treatment for maple syrup urine disease
Jul 06, 2016
Publishing in Scientific Reports, researchers show that the widely-used diabetes drug metformin reduces the toxic acid levels associated with maple syrup urine disease in both skin cells derived from maple syrup urine disease patients and in mice. The discovery offers the possibility of a new treatment.
Highly efficient agent against Wilson disease
Jun 21, 2016
In the Journal of Clinical Investigation, scientists describe a small peptide that very efficiently binds excess copper from liver cells. This molecule comes from a bacterium's bag of tricks and could be suitable for treating Wilson disease. In an experimental model it has already proven superior to conventional medicines.
Stem-cell model for Smith-Lemli-Opitz syndrome
Apr 20, 2016
Studies performed by a Sanford Research scientist uncovered unique cellular defects associated with Smith-Lemli-Opitz syndrome by modeling this disease using induced pluripotent stem cells. It was discovered that 7DHC accumulation, not cholesterol deficiency, was a hallmark of these cells.
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Patient Handouts

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

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