|
|
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-methylglutaconic aciduria +
6-Phosphogluconolactonase Deficiency
Acetylcarnitine Deficiency
Acid Phosphatase Deficiency
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate An autosomal recessive disorder characterized by acute reversible neurologic deterioration in the context of a febrile illness. The disorder is associated with transient leukoencephalopathy on brain imaging concurrent with the acute episode, as well as persistently increased excretion of dicarboxylic acids, particularly alpha-ketoglutarate.
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Adult-Onset Muscular Dystrophy with Leukoencephalopathy
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 +
brain small vessel disease 1
Butyrylcholinesterase Deficiency
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
carbohydrate metabolic disorder +
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
Carnitine Acetyltransferase Deficiency
cerebral amyloid angiopathy +
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebroretinal Microangiopathy with Calcifications and Cysts +
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
combined oxidative phosphorylation deficiency 12
congenital leptin deficiency
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
Copper Deficiency, Familial Benign
cytochrome-c oxidase deficiency disease +
Deafness Hyperuricemia Neurologic Ataxia
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
Decreased Urinary Activity of Kallikrein
Defect in Hyaluronan Metabolism
Defect in Hydroxylation of Diphenylhydantoin
Deficient N-Hydroxylation of Amobarbital
Demyelinating Autoimmune Diseases, CNS +
Deoxyribose-5-Phosphate Aldolase Deficiency
dopamine beta-hydroxylase deficiency
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +
Efavirenz, Poor Metabolism of
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy
familial erythrocytosis 8
familial hypocalciuric hypercalcemia +
FUCOSYLTRANSFERASE 6 DEFICIENCY
Glucocorticoid Receptor Deficiency
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency
Glycoprotein Storage Disease
Hereditary Central Nervous System Demyelinating Diseases +
Hereditary Diffuse Leukoencephalopathy with Spheroids 2
Hereditary Hyperbilirubinemia +
Hypercalcemia, Infantile, 1
hyperphosphatemic familial tumoral calcinosis +
hypoinsulinemic hypoglycemia with hemihypertrophy
hypomyelinating leukoencephalopathy
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity
immunoglobulin light chain amyloidosis
inclusion body myopathy and brain white matter abnormalities
Inosine Triphosphatase Deficiency
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME
isolated elevated serum creatine phosphokinase levels
isolated hyperchlorhidrosis
Lactate Dehydrogenase B Deficiency
Lactic Aciduria due to D-Lactic Acid
Leptin Receptor Deficiency
Leukoencephalopathy with Ataxia
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Dystonia and Motor Neuropathy
leukoencephalopathy with vanishing white matter
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
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 metabolism disease +
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY
Monocarboxylate Transporter 1 Deficiency
Monocyte Esterase Deficiency
Myeloperoxidase Deficiency
N Acetyltransferase Deficiency +
neonatal diabetes mellitus with congenital hypothyroidism
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities
Nonfunctional L-Gulonolactone Oxidase
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency
Oculopharyngeal Myopathy with Leukoencephalopathy 1
overhydrated hereditary stomatocytosis
permanent neonatal diabetes mellitus +
Phenacetin O-Deethylase, Deficiency of
Phenol Sulfotransferase Deficiency
phosphoglycerate kinase 1 deficiency
plasma protein metabolism disease +
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant
Poor Drug Metabolism, CYP2C19-Related
Poor Drug Metabolism, CYP2D6-Related
Poor Metabolism of Proguanil
Posterior Leukoencephalopathy Syndrome
Progressive Leukoencephalopathy, with Ovarian Failure
progressive multifocal leukoencephalopathy
purine-pyrimidine metabolic disorder +
pyrimidine metabolic disorder +
renal tubular transport disease +
Retinol-Binding Protein Deficiency
Ribose 5-Phosphate Isomerase Deficiency
RNASET2-deficient cystic leukoencephalopathy
SEDOHEPTULOKINASE DEFICIENCY
sepiapterin reductase deficiency
Squalene Synthase Deficiency
steroid inherited metabolic disorder +
SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY
Telencephalic Leukoencephalopathy
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
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy
|
|
