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3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-methylglutaconic aciduria +
6-Phosphogluconolactonase Deficiency
Acetylcarnitine Deficiency
Acid Phosphatase Deficiency
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate
adult-onset ataxia and polyneuropathy
Alpha-Fetoprotein Deficiency
Alpha-Fetoprotein, Hereditary Persistence of
amino acid metabolic disorder +
Amino Acid Transport Disorders, Inborn +
Angiotensin I-Converting Enzyme, Benign Serum Increase
Arene Oxide Detoxification Defect
aromatase excess syndrome
Aryl Hydrocarbon Hydroxylase Inducibility
bilirubin metabolic disorder +
Butyrylcholinesterase Deficiency
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
carbamoyl phosphate synthetase I deficiency disease
carbohydrate metabolic disorder +
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
Carnitine Acetyltransferase Deficiency
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
cerebral amyloid angiopathy +
Childhood Myocerebrohepatopathy Spectrum
CHITOTRIOSIDASE DEFICIENCY
coenzyme Q10 deficiency disease +
Combined Congenital Deficiency of Intrinsic Factor and R Binder
Combined Defect of Growth Factors
Combined Exocrine Pancreatic Insufficiency
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia
combined oxidative phosphorylation deficiency +
congenital leptin deficiency
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
Copper Deficiency, Familial Benign
cytochrome-c oxidase deficiency disease + A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. (DO)
Deafness Hyperuricemia Neurologic Ataxia
deafness-dystonia-optic neuronopathy syndrome
Decreased Urinary Activity of Kallikrein
Defect in Hyaluronan Metabolism
Defect in Hydroxylation of Diphenylhydantoin
Deficient N-Hydroxylation of Amobarbital
Deoxyguanosine Kinase Deficiency
Deoxyribose-5-Phosphate Aldolase Deficiency
developmental and epileptic encephalopathy 39
dopamine beta-hydroxylase deficiency
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
Efavirenz, Poor Metabolism of
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
ethylmalonic encephalopathy
familial erythrocytosis 8
familial hypocalciuric hypercalcemia +
FUCOSYLTRANSFERASE 6 DEFICIENCY
Glucocorticoid Receptor Deficiency
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency
Glycoprotein Storage Disease
Hereditary Hyperbilirubinemia +
HMG-CoA synthase 2 deficiency
Hypercalcemia, Infantile, 1
Hypermetabolism due to Defect in Mitochondria
HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2
hyperphosphatemic familial tumoral calcinosis +
hypoinsulinemic hypoglycemia with hemihypertrophy
hypomyelinating leukodystrophy 4
hypotonia-cystinuria syndrome
immunoglobulin light chain amyloidosis
Inosine Triphosphatase Deficiency
isolated elevated serum creatine phosphokinase levels
isolated hyperchlorhidrosis
Lactate Dehydrogenase B Deficiency
Lactic Aciduria due to D-Lactic Acid
Late-Onset Carnitine Palmitoyltransferase II Deficiency
Leber hereditary optic neuropathy +
Leptin Receptor Deficiency
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukotriene C4 Synthase Deficiency
lipid metabolism disorder +
lysosomal storage disease +
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type
Mannose-Binding Protein Deficiency
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
Metabolic Brain Diseases, Inborn +
metal metabolism disorder +
Methemoglobin Reductase Deficiency
Methylmalonyl-Coenzyme A Mutase 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 metabolism disease +
Mitochondrial Phosphate Carrier Deficiency
mitochondrial pyruvate carrier deficiency
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY
Monocarboxylate Transporter 1 Deficiency
Monocyte Esterase Deficiency
multiple acyl-CoA dehydrogenase deficiency +
multiple mitochondrial dysfunctions syndrome +
Myeloperoxidase Deficiency
Myopathy with Giant Abnormal Mitochondria
Myopathy, Cataract, Hypogonadism Syndrome
N Acetyltransferase Deficiency +
neonatal diabetes mellitus with congenital hypothyroidism
Nonfunctional L-Gulonolactone Oxidase
Noninsulin-Dependent Diabetes Mellitus with Deafness
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
overhydrated hereditary stomatocytosis
Parkinson's Disease, Mitochondrial
permanent neonatal diabetes mellitus +
Phenacetin O-Deethylase, Deficiency of
Phenol Sulfotransferase Deficiency
phosphoglycerate kinase 1 deficiency
plasma protein metabolism disease +
Poor Drug Metabolism, CYP2C19-Related
Poor Drug Metabolism, CYP2D6-Related
Poor Metabolism of Proguanil
Progressive External Ophthalmoplegia with Hypogonadism
Proximal Myopathy with Focal Depletion of Mitochondria
purine-pyrimidine metabolic disorder +
pyrimidine metabolic disorder +
pyruvate carboxylase deficiency disease +
pyruvate decarboxylase deficiency +
renal tubular transport disease +
Retinol-Binding Protein Deficiency
SEDOHEPTULOKINASE DEFICIENCY
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
sepiapterin reductase deficiency
Spinocerebellar Ataxia with Epilepsy
Squalene Synthase Deficiency
steroid inherited metabolic disorder +
Succinate-Coa Ligase Deficiency +
SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
thiopurine S-methyltransferase deficiency +
Thyrotropin-Releasing Hormone Deficiency
Transcobalamin I Deficiency
type 1 diabetes mellitus 2
variant ABeta2M amyloidosis
very long chain acyl-CoA dehydrogenase deficiency
vitamin metabolic disorder +
Weinstein Kliman Scully Syndrome
Wiedemann Oldigs Oppermann Syndrome
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