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2,4-Dienoyl-CoA Reductase Deficiency
2-hydroxyglutaric aciduria +
Acetyl-Coa Carboxylase Deficiency
alpha-methylacyl-CoA racemase deficiency
Apolipoprotein A-I, Deficiency of +
APOLIPOPROTEIN A-II DEFICIENCY
Apolipoprotein E, Deficiency or Defect of +
Asparagine Synthetase Deficiency
branched-chain keto acid dehydrogenase kinase deficiency
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods
carnitine palmitoyltransferase I deficiency
carnitine palmitoyltransferase II deficiency +
carnitine-acylcarnitine translocase deficiency
cerebrotendinous xanthomatosis
Charcot-Marie-Tooth disease +
chylomicron retention disease
Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy
congenital bile acid synthesis defect 4
Congenital Lp(A) Deficiency
creatine transporter deficiency
CST3-related cerebral amyloid angiopathy +
Cytosolic Acetoacetyl-CoA Thiolase Deficiency
D-bifunctional protein deficiency
Defect of Tricarboxylic Acid Cycle
distal hereditary motor neuronopathy type 7 +
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
Encephalopathy, Spastic Tetraparesis, and Hypogonadism
familial combined hyperlipidemia +
familial hyperlipidemia +
Giant Axonal Neuropathy +
Glycosylphosphatidylinositol Deficiency +
Hagemoser Weinstein Bresnick Syndrome
Hepatic Lipase Deficiency
Hereditary Central Nervous System Demyelinating Diseases +
Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive
hereditary neuropathy with liability to pressure palsies
Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance
Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive
hereditary spastic paraplegia +
Hereditary Thermosensitive Neuropathy
hyperlipoproteinemia type IV
Hypertriglyceridemia, Transient Infantile
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +
Lysosomal Storage Diseases, Nervous System +
maple syrup urine disease +
medium chain acyl-CoA dehydrogenase deficiency
Microphthalmia and Mental Deficiency
multiple congenital anomalies-hypotonia-seizures syndrome +
Myopathy with Abnormal Lipid Metabolism
neutral lipid storage disease +
oculocerebrorenal syndrome +
Pancreatic Lipase Deficiency
peroxisomal acyl-CoA oxidase deficiency
peroxisomal biogenesis disorder +
Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder
Phospholipase A2, Group IVA, Deficiency of
Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive
pyruvate carboxylase deficiency disease +
pyruvate decarboxylase deficiency +
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression
Refsum disease + An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.
rhizomelic chondrodysplasia punctata +
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
short chain acyl-CoA dehydrogenase deficiency
Silengo Lerone Pelizza Syndrome
Slowed Nerve Conduction Velocity, Autosomal Dominant
Smith-Lemli-Opitz syndrome +
steroid inherited metabolic disorder +
syndromic X-linked intellectual disability type 10
Triglyceride Storage Disease, Type I
Triglyceride Storage Disease, Type II
very long chain acyl-CoA dehydrogenase deficiency
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