Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
ENCEPHALOPATHY, PORPHYRIA-RELATED
Encephalopathy, Spastic Tetraparesis, and Hypogonadism
galactosemia +
glycine encephalopathy +
Hartnup disease
Hereditary Central Nervous System Demyelinating Diseases +
homocarnosinosis
homocystinuria +
Hyperglycinemia, Lactic Acidosis, and Seizures
hyperlysinemia +
Leigh disease +
A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. (DO)
Lesch-Nyhan syndrome +
Lysosomal Storage Diseases, Nervous System +
maple syrup urine disease +
MELAS syndrome +
Menkes disease +
MERRF Syndrome +
mevalonic aciduria
Microphthalmia and Mental Deficiency
mitochondrial complex IV deficiency nuclear type 23
mitochondrial pyruvate carrier deficiency
oculocerebrorenal syndrome +
phenylketonuria +
pyruvate carboxylase deficiency disease +
pyruvate decarboxylase deficiency +
pyruvate kinase deficiency of red cells
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression