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2,4-Dienoyl-CoA Reductase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
6-Phosphogluconolactonase Deficiency
Acetyl-Coa Carboxylase Deficiency
Acetylcarnitine Deficiency
Acid Phosphatase Deficiency
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate
Alpha-Fetoprotein Deficiency
Alpha-Fetoprotein, Hereditary Persistence of
alpha-methylacyl-CoA racemase deficiency
amino acid metabolic disorder +
Amino Acid Transport Disorders, Inborn +
Angiotensin I-Converting Enzyme, Benign Serum Increase
APOLIPOPROTEIN A-II DEFICIENCY
Apolipoprotein E, Deficiency or Defect of +
Arene Oxide Detoxification Defect
aromatase excess syndrome
Aryl Hydrocarbon Hydroxylase Inducibility
bilirubin metabolic disorder +
Butyrylcholinesterase Deficiency
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
carbohydrate metabolic disorder +
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
Carnitine Acetyltransferase Deficiency
carnitine palmitoyltransferase I deficiency
carnitine palmitoyltransferase II deficiency +
carnitine-acylcarnitine translocase deficiency
cerebral amyloid angiopathy +
cerebrotendinous xanthomatosis
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 leptin deficiency
Congenital Lp(A) Deficiency
congenital nonspherocytic hemolytic anemia 4
congenital nonspherocytic hemolytic anemia 5
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
Copper Deficiency, Familial Benign
Cytosolic Acetoacetyl-CoA Thiolase Deficiency
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
familial combined hyperlipidemia +
familial erythrocytosis 8
familial hyperlipidemia +
familial hypocalciuric hypercalcemia +
FUCOSYLTRANSFERASE 6 DEFICIENCY
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets
Glucocorticoid Receptor Deficiency
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency
Glycoprotein Storage Disease
Glycosylphosphatidylinositol Deficiency +
Hereditary Hyperbilirubinemia +
Hypercalcemia, Infantile, 1
hyperphosphatemic familial tumoral calcinosis +
Hypertriglyceridemia, Transient Infantile
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
Leptin Receptor Deficiency
Leukotriene C4 Synthase Deficiency
lipid metabolism disorder +
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +
lysosomal storage disease +
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type
Mannose-Binding Protein Deficiency
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
medium chain acyl-CoA dehydrogenase deficiency
Metabolic Brain Diseases, Inborn +
metal metabolism disorder +
Methemoglobin Reductase Deficiency
Methylmalonyl-Coenzyme A Mutase Deficiency
mitochondrial metabolism disease +
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Monocarboxylate Transporter 1 Deficiency
Monocyte Esterase Deficiency
multiple congenital anomalies-hypotonia-seizures syndrome +
Myeloperoxidase Deficiency
Myopathy with Abnormal Lipid Metabolism
N Acetyltransferase Deficiency +
neonatal diabetes mellitus with congenital hypothyroidism
Nonfunctional L-Gulonolactone Oxidase
overhydrated hereditary stomatocytosis
Pancreatic Lipase Deficiency
permanent neonatal diabetes mellitus +
peroxisomal acyl-CoA oxidase deficiency
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
poor metabolism of thiopurines +
purine-pyrimidine metabolic disorder +
pyrimidine metabolic disorder +
renal tubular transport disease +
Retinol-Binding Protein Deficiency
rhizomelic chondrodysplasia punctate type 4
SEDOHEPTULOKINASE DEFICIENCY
sepiapterin reductase deficiency
short chain acyl-CoA dehydrogenase deficiency
Smith-Lemli-Opitz syndrome +
Squalene Synthase Deficiency
steroid inherited metabolic disorder + A lipid metabolism disorder that involves defects in steroid metabolism. (DO)
SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY
syndromic X-linked intellectual disability type 10
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Thyrotropin-Releasing Hormone Deficiency
Transcobalamin I Deficiency
Triglyceride Storage Disease, Type I
Triglyceride Storage Disease, Type II
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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