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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
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
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
bilirubin metabolic disorder +
Butyrylcholinesterase Deficiency
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
carbohydrate metabolic disorder +
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
Carnitine Acetyltransferase Deficiency
central pontine myelinolysis
cerebral amyloid angiopathy +
CHITOTRIOSIDASE DEFICIENCY
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
Congenital disorder of deglycosylation +
congenital leptin deficiency
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
Copper Deficiency, Familial Benign
Deafness Hyperuricemia Neurologic Ataxia
Decreased Urinary Activity of Kallikrein
Defect in Hyaluronan Metabolism
Defect in Hydroxylation of Diphenylhydantoin
Deficient N-Hydroxylation of Amobarbital
Deoxyribose-5-Phosphate Aldolase Deficiency
dopamine beta-hydroxylase deficiency
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
Efavirenz, Poor Metabolism of
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
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 +
Hypercalcemia, Infantile, 1
hyperphosphatemic familial tumoral calcinosis +
immunoglobulin light chain amyloidosis
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
Inosine Triphosphatase Deficiency
isolated elevated serum creatine phosphokinase levels
isolated hyperchlorhidrosis
Lactate Dehydrogenase B Deficiency
Lactic Aciduria due to D-Lactic Acid
Leptin Receptor Deficiency
Leukotriene C4 Synthase Deficiency
lipid metabolism disorder +
lysosomal storage disease +
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type
Mannose-Binding Protein Deficiency
Marchiafava-Bignami Disease
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
Metabolic Brain Diseases, Inborn + Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
metal metabolism disorder +
Methemoglobin Reductase Deficiency
Methylmalonyl-Coenzyme A Mutase Deficiency
mitochondrial encephalomyopathy +
mitochondrial metabolism disease +
Monocarboxylate Transporter 1 Deficiency
Monocyte Esterase Deficiency
Myeloperoxidase Deficiency
N Acetyltransferase Deficiency +
neonatal diabetes mellitus with congenital hypothyroidism
Nonfunctional L-Gulonolactone Oxidase
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency
overhydrated hereditary stomatocytosis
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
purine-pyrimidine metabolic disorder +
pyridoxamine 5'-phosphate oxidase deficiency
pyrimidine metabolic disorder +
renal tubular transport disease +
Retinol-Binding Protein Deficiency
Schofer Beetz Bohl Syndrome
SEDOHEPTULOKINASE DEFICIENCY
sepiapterin reductase deficiency
Squalene Synthase Deficiency
steroid inherited metabolic disorder +
SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY
TANGO2-related metabolic encephalopathy and arrythmias
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
vitamin metabolic disorder +
Weinstein Kliman Scully Syndrome
Wiedemann Oldigs Oppermann Syndrome
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