fructose intolerance (1:20,000 to 1:50,000) Glycogen storage diseases (1:25,000) Galactosemia (1:40,000) Organic acidemias (1:50,000) Phospho enol pyruvate carboxykinase
[aafp.org]
fructose intolerance (1:20,000 to 1:50,000) Mitochondrial disorders (1:30,000; e.g., mitochondrial DNA depletion syndromes) Galactosemia (1:40,000) Wilson's disease (1:50,000
[aafp.org]
fructose intolerance (1:20,000 to 1:50,000) Mitochondrial disorders (1:30,000; e.g., ETC disorders) Galactosemia (1:40,000) Wilson's disease (1:50,000) Cystinosis (1:100,000
[aafp.org]
As mentioned, a complete lack of tooth decay can also serve as an indicator for hereditary fructose intolerance.
[symptoma.com]
[…] artery aneurysm 肝内結石症 hepatolithiasis 肝内胆管癌 intrahepatic cholangiocarcinoma 肝内胆管形成不全症 intrahepatic bile duct hypoplasia 肝内胆汁うっ滞 intrahepatic cholestasis 肝肉芽腫 hepatic granuloma
[jsge.or.jp]
Five children with hereditary fructose intolerance developed symptoms of neurological impairment.
[ncbi.nlm.nih.gov]
With further age, infantile causes of liver failure include tyrosinemia type I, but also hereditary fructose intolerance (also may demonstrate renal Fanconi disorder), fatty
[clinicaladvisor.com]
[…] artery aneurysm 肝内結石症 hepatolithiasis 肝内胆管癌 intrahepatic cholangiocarcinoma 肝内胆管形成不全症 intrahepatic bile duct hypoplasia 肝内胆汁うっ滞 intrahepatic cholestasis 肝肉芽腫 hepatic granuloma
[jsge.or.jp]
Tyrosinemia type I should be differentiated from other causes of hepatitis and hepatic failure in infants, including galactosemia, hereditary fructose intolerance, neonatal
[clinicalgate.com]
fructose intolerance, galactosemia, glycogen storage disease type I, Wilson disease, Lowe syndrome, inherited carbonic anhydrase deficiency) Sporadic Heavy metal poisoning
[unboundmedicine.com]
Hepatic anomalies include variable combinations of cholestasis, intrahepatic biliary duct hypoplasia and lipofuscin deposition.
[orpha.net]
[…] disease such as Fanconi syndrome, hereditary fructose intolerance, Wilson disease, or oculocerebrorenal syndrome (Lowe syndrome) May also be caused by multiple myeloma, heavy
[merckmanuals.com]
fructose intolerance) (see these terms), diseases that present with fat and fat soluble vitamin malabsorption, including other liver diseases, and intestinal disease, or
[orpha.net]
Hepatic anomalies include variable combinations of cholestasis, intrahepatic biliary duct hypoplasia and lipofuscin deposition.
[findzebra.com]
fructose intolerance or diseases that present with growth failure (panhypopituitarism) (see these terms).
[orpha.net]
fructose intolerance 55 galactosemia (uridylyltransferase deficiency) 56 galactosemia (epimerase deficiency) 57 galactosemia (galactokinase deficiency) 58 transaldolase deficiency
[boks.be]
[…] artery aneurysm 肝内結石症 hepatolithiasis 肝内胆管癌 intrahepatic cholangiocarcinoma 肝内胆管形成不全症 intrahepatic bile duct hypoplasia 肝内胆汁うっ滞 intrahepatic cholestasis 肝肉芽腫 hepatic granuloma
[jsge.or.jp]
[…] deficiency E74.12 Hereditary fructose intolerance Fructosemia E74. 19 Other disorders of fructose metabolism Fructose-1, 6-diphosphatase deficiency E74.2 Disorders of galactose
[en.wikisource.org]
fructose intolerance, cystic fibrosis, and biliary atresia.[2] See also[edit] Neonatal jaundice References[edit] ^ a b Pediatric Gastrointestinal and Liver Disease (5 ed.
[en.wikipedia.org]
INTRAHEPATIC ETIOLOGIESINTRAHEPATIC ETIOLOGIES Hepatocellular causes Bile duct injury (Neonatal hepatitis) Idiopathic: INH Toxic Intrahepatic bile duct Genetic/Chromosomal
[slideshare.net]
Metabolic etiologies include galactosemia, tyrosinemia, hereditary fructose intolerance, cytochrome chain defects, Zellweger syndrome, neonatal hemochromatosis, and alpha-one-antitrypsin
[nature.com]
Learn more Other less relevant matches: Low match FRUCTOSE INTOLERANCE, HEREDITARY Fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or
[mendelian.co]
Gastroenterologically: portal hypertension, open extra-hepatic bile duct, splenomegaly. Laboratory This section has been translated automatically.
[altmeyers.org]
[…] fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Congenital disorders of metabolism Congenital disorders of carbohydrate metabolism Hereditary fructose
[csirnotes.com]
Storage/ metabolic: – Carbohydrate- glycogen storage disease (Type 1,3,4,6), hereditary fructose intolerance, galactosaemia,, mucopolysaccaridoses- – Mineral: Wilson’s disease
[mrcpch.paediatrics.co.uk]
[…] artery aneurysm 肝内結石症 hepatolithiasis 肝内胆管癌 intrahepatic cholangiocarcinoma 肝内胆管形成不全症 intrahepatic bile duct hypoplasia 肝内胆汁うっ滞 intrahepatic cholestasis 肝肉芽腫 hepatic granuloma
[jsge.or.jp]
[…] osteodystrophy 肝性脳症 hepatic encephalopathy 肝性ポルフィリン症 hepatic porphyria 肝線維症 hepatic fibrosis 肝蛭症 fascioliasis 肝動静脈瘻 hepatic arterio-venous fistula 肝動脈閉塞 hepatic artery occlusion 肝動脈瘤 hepatic
[jsge.or.jp]
Angioedema (HAE) 39 遗传性大疱性表皮松解症 Hereditary Epidermolysis Bullosa 40 遗传性果糖不耐受症 Hereditary Fructose Intolerance 41 遗传性低镁血症 Hereditary Hypomagnesemia 42 遗传性多发脑梗死性痴呆 Hereditary
[xxgk.cnbz.gov.cn]
[…] artery aneurysm 肝内結石症 hepatolithiasis 肝内胆管癌 intrahepatic cholangiocarcinoma 肝内胆管形成不全症 intrahepatic bile duct hypoplasia 肝内胆汁うっ滞 intrahepatic cholestasis 肝肉芽腫 hepatic granuloma
[jsge.or.jp]
Other findings include cystic dilatation of bile ducts (Caroli’s disease), and hypoplasia of the portal vein branches in association with super-numerous hepatic artery branches
[omicsonline.org]
Causes of inherited liver disease include galactosemia, hereditary fructose intolerance, lysosomal storage disease, urea cycle disorders, mitochondrial DNA depletion disorders
[clinicaladvisor.com]
[…] artery aneurysm 肝内結石症 hepatolithiasis 肝内胆管癌 intrahepatic cholangiocarcinoma 肝内胆管形成不全症 intrahepatic bile duct hypoplasia 肝内胆汁うっ滞 intrahepatic cholestasis 肝肉芽腫 hepatic granuloma
[jsge.or.jp]
With further age, infantile causes of liver failure include tyrosinemia type I, but also hereditary fructose intolerance (also may demonstrate renal Fanconi disorder), fatty
[clinicaladvisor.com]
Early removal of lactose from the diet usually leads to resolution of symptoms. [18] Another carbohydrate disorder which is associated with cholestasis is hereditary fructose
[saudijgastro.com]
[…] and spontaneous perforation of the extrahepatic ducts [4] ; or it might be secondary to intrahepatic cholestasis which may be caused by neonatal hepatitis, inborn error of
[saudijgastro.com]
intolerance which is due to deficiency of fructose1-phosphate aldolase, it is also inherited as autosomal recessive and it leads to intolerance to fruit or sucrose containing
[saudijgastro.com]
fructose intolerance, hereditary tyrosinemia, neonatal iron storage disease, cystic fibrosis, alpha1-antitrypsin deficiency, glycogen storage disease, inborn errors of bile
[surgery4children.com]
ducts to the level of the porta hepatis.
[emedicine.medscape.com]
ductal cholestatic jaundice, biliary hypoplasia, paucity of intrahepatic bile ducts, choledochal cyst, inherited cholestatic jaundice, Familial cholestatic syndromes (e.g
[surgery4children.com]
Genetic Testing - Fructose Intolerance (Fructosemia) (Hereditary fructose Intolerance) - Gen ALDOB. Genetic testing - Fructosemia (see Fructose intolerance).
[ivami.com]
[…] alagille syndrome AD inheritance JAG1 or NOTCH2 IUGR, short, triangular face, borad forehead, butterfly vertebrae, posterior embrytoxin, paucity intra-hepatic bile ducts,
[brainscape.com]
Hereditary Fructose Intolerance 5 Hereditary Hemorrhagic Telangiectasia Type 2 2 Hereditary Insensitivity To Pain With Anhidrosis 3 Hereditary Leiomyomatosis And Renal Cell
[preventiongenetics.com]
Causes of inherited liver disease include galactosemia, hereditary fructose intolerance, lysosomal storage disease, urea cycle disorders, mitochondrial DNA depletion disorders
[clinicaladvisor.com]
[…] artery aneurysm 肝内結石症 hepatolithiasis 肝内胆管癌 intrahepatic cholangiocarcinoma 肝内胆管形成不全症 intrahepatic bile duct hypoplasia 肝内胆汁うっ滞 intrahepatic cholestasis 肝肉芽腫 hepatic granuloma
[jsge.or.jp]
Intolerance, 229600 aldolase, fructose-bisphosphate B; ALDOB Hereditary; 309550 Clinical Genetics Fetal Medicine Neurology, Paediatric Obstetrics Paediatrics Paediatrics
[azdoc.site]
fructose intolerance # Disorder of fructose metabolism Fructose-1,6-bisphosphatase deficiency Hereditary fructose intolerance Disorder of galactose metabolism Galactosemia
[repository.innermed.eu]
[…] of the iris Scoliosis Ambiguous genitalia, female Neural tube defect Portal fibrosis Bile duct proliferation Olfactory lobe agenesis Craniorachischisis Congenital hepatic
[mendelian.co]
[…] absorption and transport Exercise-induced hyperinsulinism Glucose transport disorder Encephalopathy due to GLUT1 deficiency Glycogen storage disease due to GLUT2 deficiency Hereditary
[repository.innermed.eu]
Hereditary expansile polyostotic osteolytic dysplasia Hereditary ferritinopathy Hereditary folate malabsorption Hereditary fructose intolerance Hereditary fructose-1-phosphate
[csbg.cnb.csic.es]
HYPOPLASIA 266910 : RENAL DYSPLASIA-LIMB DEFECTS SYNDROME 266920 : RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA, AND SKELETAL DYSPLASIA 267010 : RENAL-HEPATIC-PANCREATIC
[www5.geometry.net]
intolerance, hereditary (HFI) ALPL (=TNSALP)+del Hypophosphatasia (HOPS), adult, childhood, infantile or perinatal lethal Odontohypophosphatasia ALX4+del foramina parietalia
[uniklinik-freiburg.de]
1,6-bisphosphatase deficiency 5 818 Smith-Lemli-Opitz syndrome 3.7469 Hereditary fructose intolerance 5** 3378 Trisomy 13 3.7**685 Hereditary spastic paraplegia 5 3451 West
[fliphtml5.com]
[…] of the corpus callosum Seizures Hyperextensible skin Cutis marmorata Oxycephaly Cephalocele Bile duct proliferation Occipital encephalocele Hemimegalencephaly Multicystic
[mendelian.co]
3.898896 Duchenne muscular dystrophy 5 2932 Chronic inflammatory demyelinating polyneuropathy 3.7590309 Ehlers-Danlos syndrome type 1 5 102 Multiple system atrophy 3.7348 Fructose
[fliphtml5.com]
HEREDITARY FRUCTOSE INTOLERANCE : Deficiency of Fructose-1-Phosphate Aldolase.
[kumc.edu]
BILIARY ATRESIA: Absence or hypoplasia of intrahepatic biliary tracts or the extrahepatic biliary ducts.
[kumc.edu]
Infections: Viral hepatitis (HBV, HCV), TORCH Complex. PATHOLOGY: Giant-Cell transformation of hepatocytes is characteristic. Bile pigment prominent with hepatocytes.
[kumc.edu]
Hereditary Fructose Intolerance 5 Hereditary Hemorrhagic Telangiectasia Type 2 2 Hereditary Insensitivity To Pain With Anhidrosis 3 Hereditary Leiomyomatosis And Renal Cell
[preventiongenetics.com]
Hereditary nephritis, hypoplastic lungs and hypoplasia of hepatic ducts occurs.
[atulchoube.wordpress.com]
Angioneurotic Edema 1 Hereditary Coproporphyria 4 Hereditary Diffuse Gastric Cancer 4 Hereditary Factor IX Deficiency Disease 3 Hereditary Factor XI Deficiency Disease 3
[preventiongenetics.com]
HEREDITARY FRUCTOSE INTOLERANCE : Deficiency of Fructose-1-Phosphate Aldolase.
[kumc.edu]
BILIARY ATRESIA: Absence or hypoplasia of intrahepatic biliary tracts or the extrahepatic biliary ducts.
[kumc.edu]
Infections: Viral hepatitis (HBV, HCV), TORCH Complex. PATHOLOGY: Giant-Cell transformation of hepatocytes is characteristic. Bile pigment prominent with hepatocytes.
[kumc.edu]
/ Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis / Hereditary folate malabsorption / Hereditary fructose intolerance / Hereditary
[gennome.com]
HYPOPLASIA 266910 : RENAL DYSPLASIA-LIMB DEFECTS SYNDROME 266920 : RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA, AND SKELETAL DYSPLASIA 267010 : RENAL-HEPATIC-PANCREATIC
[www5.geometry.net]
[…] diffuse gastric cancer / Hereditary diffuse leukoencephalopathy with spheroids / Hereditary elliptocytosis / Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
[gennome.com]
intolerance, hereditary (HFI) ALPL (=TNSALP)+del Hypophosphatasia (HOPS), adult, childhood, infantile or perinatal lethal Odontohypophosphatasia ALX4+del foramina parietalia
[uniklinik-freiburg.de]
[…] steatosis Long face Undetectable electroretinogram Macrotia Generalized cerebral atrophy/hypoplasia Calcific stippling Fetal ascites Chylous ascites Renal cortical microcysts
[mendelian.co]
intolerance, hereditary (HFI) ALDOB+del Fuhrmann syndrome (FUHRS) WNT7A Furlong syndrome TGFBR1+dup Galactose-1-phosphate uridylyltransferase deficiency GALT+del Galactosemia
[uniklinik-freiburg.de]