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2-hydroxyglutaric aciduria +
adult-onset ataxia and polyneuropathy
Asparagine Synthetase Deficiency
branched-chain keto acid dehydrogenase kinase deficiency
carbamoyl phosphate synthetase I deficiency disease
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
cerebral creatine deficiency syndrome 1
Childhood Myocerebrohepatopathy Spectrum
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
coenzyme Q10 deficiency disease +
combined oxidative phosphorylation deficiency +
congenital disorder of deglycosylation +
congenital disorder of glycosylation +
congenital lactase deficiency
congenital nonspherocytic hemolytic anemia 2
congenital sucrase-isomaltase deficiency
CST3-related cerebral amyloid angiopathy +
cytochrome-c oxidase deficiency disease +
deafness-dystonia-optic neuronopathy syndrome
Defect of Tricarboxylic Acid Cycle
Deoxyguanosine Kinase Deficiency
developmental and epileptic encephalopathy 39
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
ENCEPHALOPATHY, PORPHYRIA-RELATED
Encephalopathy, Spastic Tetraparesis, and Hypogonadism
ethylmalonic encephalopathy
Fructose and Galactose Intolerance
Fructose Metabolism, Inborn Errors +
fructose-1,6-bisphosphatase deficiency +
glucose metabolism disease +
glucosephosphate dehydrogenase deficiency +
glycerol kinase deficiency
glycogen metabolism disorder +
Hereditary Central Nervous System Demyelinating Diseases +
HMG-CoA synthase 2 deficiency
Hyperglycinemia, Lactic Acidosis, and Seizures
Hypermetabolism due to Defect in Mitochondria
HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2
hypomyelinating leukodystrophy 4
hypotonia-cystinuria syndrome
intestinal disaccharidase deficiency
Lactate Dehydrogenase Deficiency
Late-Onset Carnitine Palmitoyltransferase II Deficiency
Leber hereditary optic neuropathy +
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Lysosomal Storage Diseases, Nervous System +
Mannosidase Deficiency Diseases +
maple syrup urine disease +
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
Microphthalmia and Mental Deficiency
Mitochondrial Cardiomyopathy
mitochondrial complex I deficiency +
mitochondrial complex II deficiency +
mitochondrial complex III deficiency +
mitochondrial complex V (ATP synthase) deficiency +
Mitochondrial Cytopathy +
mitochondrial DNA depletion syndrome +
Mitochondrial Phosphate Carrier Deficiency
mitochondrial pyruvate carrier deficiency
multiple acyl-CoA dehydrogenase deficiency +
multiple carboxylase deficiency +
multiple mitochondrial dysfunctions syndrome +
Myopathy with Giant Abnormal Mitochondria
Myopathy with Storage of Glycoproteins and Glycosaminoglycans
Myopathy, Cataract, Hypogonadism Syndrome
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Noninsulin-Dependent Diabetes Mellitus with Deafness
oculocerebrorenal syndrome +
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
Parkinson's Disease, Mitochondrial
Phosphoenolpyruvate Carboxykinase Deficiency +
Progressive External Ophthalmoplegia with Hypogonadism
Proximal Myopathy with Focal Depletion of Mitochondria
pyruvate carboxylase deficiency disease + A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis. (DO)
pyruvate decarboxylase deficiency +
Pyruvate Metabolism, Inborn Errors +
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression
Ribose 5-Phosphate Isomerase Deficiency
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Silengo Lerone Pelizza Syndrome
Spinocerebellar Ataxia with Epilepsy
Storage of Unusual Polysaccharide
Succinate-Coa Ligase Deficiency +
very long chain acyl-CoA dehydrogenase deficiency
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