hyporeflexia

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hyporeflexia

Associated Diseases	Laboratory Findings	Clinical Symptoms
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ia MIM:212065 METACHROMATIC LEUKODISTROPHIES MIM:250100 SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY MIM:271980 ZELLWEGER SYNDROME MIM:214100	12-Hydroxy-eicosatetraenoic acid 15-Hydroxy-eicosatetraenoic acid 2 4-Dihydroxybutyric acid 3 4-Dihydroxybutyric acid 4-Hydroxybutyric acid 8-iso-prostaglandin F2alpha Adipic acid Alkyl-dihydroxyacetone-phosphate synthase alpha1-Antitrypsine Antithrombin III (AT III) Arylsulfatase A Asialotransferrin Azelaic acid Bile acid intermediates C24:0/C22:0 C26:0 C26:0/C22:0 C26:1 Carbohydrate-deficient transferrins Cholesterol Coagulopathy/Coagulation factors conjunctival biopsy abnormal Dicarboxylic acids urine Dihydroxyacetone-phosphate acyltransferase (DHAPAT) Disialotransferrin EEG abnormalities [-] Galactosylceramide 3-sulfate gamma-Aminobutyric acid Glycine Haptoglobin Iron Lactosylceramide 3-sulfate MRI brain abnormalities [-] MRI brain white matter abnormalities [-] Peroxisomal 3-oxoacyl-CoA thiolase Peroxisomal Acyl-CoA oxidase Peroxisomal bifunctional enzyme Peroxisomes liver Phosphomannomutase Phytanic acid oxidation Phytanic acid Pimelic acid Pipecolic acid Plasmalogens biosynthesis Protein total spinal fluid Sebacic acid Suberic acid Succinic semialdehyde dehydrogenase Succinic semialdehyde Sulfatide urine Tetrasialotransferrin Thyroxine binding globuline (TBG) Transaminases Transferrin Very-long-chain fatty acid oxidation Very-long-chain fatty acids	Amino acid, spinal fluid Amino acids, plasma Amino acids, urine ascites ataxia behavior, abnormal or bizarre, confusion behavior, autism or autistic-like behavior, hyperactive, restless birthweight low (small for gestational age) buphthalmus cardiomyopathy cataract cerebellar atrophy or hypoplasia cholestasis chorea or athetosis cirrhosis or fibrosis of liver clinodactyly clitoral hypertrophy coma congenital heart defect cryptorchism defect of walking, running, rising or climbing dysarthria dysmorphism early death enteropathy, protein-loosing epicanthus or medial eyelid fold failure to thrive Fanconi syndrome feeding difficulties, poor feeding gallbladder abnormalities glaucoma growth retardation heart involvement high arched palate high forehead hydrops fetalis hyperinsulinism hyperreflexia hypoglycemia hyporeflexia hypotonia intracranial hemorrhage inverted nipples large liver large mid-face (broad, prominent) lethargy, drowsiness, malaise or sleep disorder limb abnormalities, limb deformities lipodystrophia liver failure liver involvement (acute, chronic, hepatitis) low set ears macrocephaly (large calvaria, >2 SD for age) mental retardation microcephaly motor retardation myopathy, ragged red fibers nephrosis nephrotic syndrome, congenital nystagmus onset, adult onset, child onset, infant onset, newborn Organic acid, spinal fluid Organic acids, urine osteoporosis pericardial effusion peripheral neuropathy progressive neurologic defect ptosis (drooping eyelid) renal cysts retinitis pigmentosa retinopathy round facies (moon-face, broad) seizures shortened gestation time skeletal changes speech development, delayed, abnormal strabismus strokelike episodes