Disease: ACAD8 deficiency

An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.

Source: http://www.rightdiagnosis.com

["Hypertelorism, ocular\n","Acroosteolysis\n","Micrognathia\n\nSource: Diseases Database\n\nSee also the symptoms of Van Bogaert-Hozay syndrome and ","Death\n","Sepsis\n\nSee also the symptoms of Febrile Ulceronecrotic Mucha-Habermann disease and Febr","Female infertility\n","Amenorrhoea\n\nSource: Diseases Database\n\nSee also the symptoms of Asherman's syndrome and ","Low density lipoprotein levels low (serum or plasma)\n","Lymphadenopathy\n","Hypocholesterolaemia\n","Peripheral neuropathy\n","Splenomegaly\n","Hepatomegaly\n","Corneal opacity\n","High density lipoprotein levels low (plasma or serum)\n","Autonomic neuropathy, peripheral\n","Intermediate density lipoprotein levels raised (plasma or serum)\n\nSource: Diseases Database\n\nSee also the symptoms of Tangier disease and ","Onycholysis\n","Nail pitting\n","Alopecia\n\nSource: Diseases Database\n\nSee also the symptoms of Alopecia Areata and ","Kidney failure\n","Respiratory failure\n","Heart failure\n","Endocrine failure\n\nSee also the symptoms of Amyloidosis, inflammatory and Amyl","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of Aortic aneurysm, familial abdominal 1 and Aort","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of Aortic aneurysm, familial abdominal 2 and Aort","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of Aortic aneurysm, familial abdominal 3 and Aort","Loss of vision\n\nSee also the symptoms of Acute Angle Closure Glaucoma and Acut","Cirrhosis of liver\n","Cholestasis, intrahepatic\n","Lymphoedema\n\nSource: Diseases Database\n\nSee also the symptoms of Aagenaes syndrome and ","Optic nerve disorder\n\nSource: Diseases Database\n\nSee also the symptoms of Optic neuropathy, anterior ischemic and ","Death\n\nSee also the symptoms of Chemical poisoning -- Lindane and Chem","Death soon after birth (see Stillbirth)\n\nSee also the symptoms of Al Awadi syndrome and Al A","Pectus excavatum\n","Ophthalmoplegia\n","Short stature\n","Syndactyly\n","Strabismus, concomitant\n","Hypertelorism, ocular\n","Blepharoptosis\n","Cryptorchism (maldescended or ectopic testis)\n\nSource: Diseases Database\n\nSee also the symptoms of Aarskog Syndrome and ","Joint hypermobility\n","Rieger anomaly\n","Lipodystrophy\n","Clinodactyly\n","Facies abnormality\n","Short stature\n","Intrauterine growth retardation\n\nSource: Diseases Database\n\nSee also the symptoms of Aarskog-Ose-Pande syndrome and ","Sensory neuropathy (see Tingling) - due to administration of excessive levels of pyridoxine\n\nSee also the symptoms of Epilepsy, Pyridoxine-Dependent and Epil","Ventricular septal defect\n","Pure red cell aplasia\n","Short stature\n\nSource: Diseases Database\n\nSee also the symptoms of Aase Smith syndrome and ","Impaired resistance to infection\n","Complications due to anemia e.g. tiredness\n","Severe cases may result in death at birth or early in life\n\nSee also the symptoms of Aase Syndrome and Aase","Stillbirth\n","Death during infancy\n","Anemia\n\nSee also the symptoms of Aase-Smith I syndrome and Aase","Cirrhosis\n","Portal hypertension\n","Osteoporosis\n","Heart failure\n","Hemosiderosis due to multiple blood transfusions\n","Increased risk of leukemia\n","Osteoporosis due to long term corticosteroid therapy\n","Thrombocytosis\n","Congestive heart failure\n","Premature death (type of Death)\n\nSee also the symptoms of Diamond-Blackfan anemia and Diam","Ligament laxity\n","Learning disability\n","Aminoaciduria\n\nSource: Diseases Database\n\nSee also the symptoms of Saccharopinuria and ","Emphysema\n","Liver damage\n","Panniculitis\n\nSee also the symptoms of Homozygotic Alpha 1 antitrypsin Defeciency and Homo","Cirrhosis of liver\n","Hepatic failure\n","Neonatal jaundice\n","Hepatocellular jaundice\n","Emphysema, pulmonary\n","Serum protein electrophoresis abnormal\n\nSource: Diseases Database\n\nSee also the symptoms of Alpha 1-Antitrypsin Deficiency and ","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of Aortic aneurysm, familial thoracic 1 and Aort","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of Aortic aneurysm, familial thoracic 2 and Aort","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of Aortic aneurysm, familial thoracic 3 and Aort","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of Aortic aneurysm, familial thoracic 4 and Aort","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of Aortic aneurysm, familial thoracic 5 and Aort","Hypotonia (skeletal muscle)\n","Cherry red spot on macula\n","Learning disability\n","Fits\n\nSource: Diseases Database\n\nSee also the symptoms of GM2-gangliosidosis, AB variant and ","Anaphylactic shock\n","Unconsciousness due to anaphylactic reaction\n","Death due to anaphylactic reaction\n\nSee also the symptoms of Food Allergy -- abalone and Food","Hypotonia (skeletal muscle)\n","Hyperreflexia\n","Tall stature\n","Learning disability\n\nSource: Diseases Database\n\nSee also the symptoms of Gamma aminobutyric acid transaminase deficiency and Gamma aminob","Aminoaciduria\n","Megaloblastic anaemia\n","Hyperglycaemia\n","Sensorineural hearing loss\n\nSource: Diseases Database\n\nSee also the symptoms of Thiamine responsive megaloblastic anemia syndrome and Thiamine respo","Hearing loss\n","Albinism\n","Macrosomia\n\nSource: Diseases Database\n\nSee also the symptoms of ABCD syndrome an","Microcephaly\n","Premature aging\n","Hyperpigmentation\n","Café au lait spots\n","Spastic ataxia\n\nSource: Diseases Database\n\nSee also the symptoms of Spastic paraplegia 23 and ","Lung restriction\n","Bowel obstruction\n\nSee also the symptoms of Adhesions and Adhe","Meningoencephalitis\n","Gastrointestinal bleeding\n","Eosinophilia\n","Zoonosis\n","Abdominal pain\n\nSource: Diseases Database\n\nSee also the symptoms of Angiostrongyliasis and ","Grey Turner's sign\n","Retroperitoneal fibrosis\n","Abdominal pain\n","Abdominal mass\n","Back pain\n","Embolism\n","Hypovolaemic shock\n\nSource: Diseases Database\n\nSee also the symptoms of Abdominal aortic aneurysm and ","Death\n\nSee also the symptoms of Abdominal Injuries and Abdo","Stillborn in 20% of cases\n","Death within 2 years in 50% of cases\n\nSee also the symptoms of Prune belly syndrome and Prun","Metastasis\n","Death\n\nSee also the symptoms of Abdominal Neoplasms and Abdo","Opsoclonus\n","Bone lysis\n","Primary brain neoplasm\n","Abdominal mass\n\nSource: Diseases Database\n\nSee also the symptoms of Neuroblastoma an","Heart diseases, cancer and other related diseases\n\nSee also the symptoms of Truncal obesity and Trun","High density lipoprotein levels low (plasma or serum)\n","Intermediate density lipoprotein levels raised (plasma or serum)\n","Hypertriglyceridaemia\n","Hyperinsulinaemia\n","Low density lipoprotein levels raised (serum or plasma)\n\nSource: Diseases Database\n\nSee also the symptoms of Abdominal obesity metabolic syndrome and A","Esotropia\n","External ophthalmoplegia\n\nSource: Diseases Database\n\nSee also the symptoms of Sixth nerve palsy and ","Meningitis due to spread of infection\n\nSee also the symptoms of Gradenigo's syndrome and Grad","Malabsorption syndrome\n","Erythrocyte sedimentation rate low\n","Anemia\n","Acanthocytosis\n","Hepatic steatosis\n","Nystagmus\n","Short stature\n","Retinitis pigmentosa\n","Low density lipoprotein levels low (serum or plasma)\n","Demyelination\n","Diarrhoea\n","Very low density lipoprotein levels low (plasma or serum)\n","Kyphosis\n","Cerebellar syndrome\n\nSource: Diseases Database\n\nSee also the symptoms of Abetalipoproteinemia and ","Corneal opacity\n","Alopecia\n","Ambiguous genitalia (female genotype)\n","Ambiguous genitalia (male genotype)\n","Macrostomia\n","Microtia\n","Cutaneous laxity\n\nSource: Diseases Database\n\nSee also the symptoms of Ablepharon macrostomia syndrome and ","Pulse abnormalities\n\nSource: Diseases Database\n\nSee also the symptoms of Abnormal Heart Rhythm and ","Pyrexia of unknown origin\n","Bronchiectasis\n","SIADH\n","Cough\n","Pulmonary eosinophilia\n","Haemoptysis\n","Upper zone lung fibrosis\n","Myocarditis\n\nSource: Diseases Database\n\nSee also the symptoms of Allergic bronchopulmonary aspergillosis and Alle","Placenta separation (see Placenta symptoms)\n","Partial placenta separation (see Placenta symptoms)\n","Fetal distress\n","Fetal death\n","Maternal death\n\nSee also the symptoms of Abruptio Placentae and Abru","Upper airway obstruction\n","Infant death #often due to respiratory problems\n\nSee also the symptoms of Antley-Bixler Syndrome and Antl","Learning disability\n","Respiratory failure type 2\n","Hearing loss\n","Fits\n\nSource: Diseases Database\n\nSee also the symptoms of Athabaskan brainstem dysgenesis and ","Hemorrhage\n\nSee also the symptoms of Adams-Oliver Syndrome and Adam","Foetal malposition\n","Neural tube defects\n","Birth hypoxia\n","Perinatal morbidity\n","Polyhydramnios\n\nSource: Diseases Database\n\nSee also the symptoms of Anencephaly ","Death\n\nSee also the symptoms of Absence of pulmonary artery and Abse","Male infertility\n","Delayed puberty\n","Hypogonadic hypogonadism\n","Eunuchoid habitus\n","Gynaecomastia\n\nSource: Diseases Database\n\nSee also the symptoms of Anorchia","Polydactyly\n","Corpus callosum hypoplasia\n","Learning disability\n","Megencephaly\n\nSource: Diseases Database\n\nSee also the symptoms of Acrocallosal Syndrome (Schinzel Type) and Ac","Infant death\n\nSee also the symptoms of Tetraamelia with pulmonary hypoplasia and Tetr","Eroded corneas - due to impaired blinking ability\n","Delayed speech development (see Speech symptoms)\n",null,"Impaired learning - due to time missed during seizure\n\nSee also the symptoms of Absence seizure and Abse","Childhood death due to infection\n\nSee also the symptoms of Dionisi-Vici-Sabetta-Gambarara syndrome and Dion","Death due to respiratory infection\n\nSee also the symptoms of Absent corpus callosum -- cataract -- immunodeficiency and Abse","Microcephaly\n","Osteoporosis\n","Alopecia\n\nSource: Diseases Database\n\nSee also the symptoms of Pseudoprogeria syndrome and ","Wrist arthritis\n","Knee arthritis\n\nSee also the symptoms of TAR syndrome and TAR ","Male infertility\n","Delayed puberty\n","Hypogonadic hypogonadism\n","Eunuchoid habitus\n","Gynaecomastia\n\nSource: Diseases Database\n\nSee also the symptoms of Anorchidia","Kidney stones\n\nSee also the symptoms of Absorptive hypercalciuria syndrome and Abso","Death in weeks in acute forms\n\nSee also the symptoms of Letterer-Siwe disease and Lett","Death\n\nSee also the symptoms of Farber's disease and Farb","Frequent vomiting\n","Dehydration due to vomiting\n","Worsening of symptoms during fasting\n","Worsening of symptoms due to infection\n\nSee also the symptoms of ACAD8 deficiency and ACAD"]

Source: http://www.rightdiagnosis.com

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