Fever, and Metabolic acidosis

Diseases related with Fever and Metabolic acidosis

In the following list you will find some of the most common rare diseases related to Fever and Metabolic acidosis that can help you solving undiagnosed cases.

Top matches:

Immunodeficiency-44 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion (summary by Shahni et al., 2015).

Related symptoms:

  • Seizures
  • Spasticity
  • Visual impairment
  • Fever
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 44; IMD44

Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.

FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY Is also known as fructose-1,6-diphosphatase deficiency|fbpase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY

The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM Is also known as cpt2, severe infantile form|cptii, severe infantile form|carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia|carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|cpt2, hepatocardiomuscular form|cptii, hepatoc

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Respiratory distress
  • Cardiomyopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM

Other less relevant matches:

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.

MALIGNANT HYPERTHERMIA OF ANESTHESIA Is also known as hyperthermia of anesthesia

Related symptoms:

  • Fever
  • Metabolic acidosis
  • Muscle stiffness
  • Ventricular tachycardia
  • Tachypnea


SOURCES: ORPHANET MENDELIAN

More info about MALIGNANT HYPERTHERMIA OF ANESTHESIA

Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.

3-HYDROXY-3-METHYLGLUTARIC ACIDURIA Is also known as hydroxymethylglutaric aciduria|hmg-coa lyase deficiency|3-hydroxy-3-methylglutaryl-coa lyase deficiency|hmgcl deficiency|hl deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Spasticity
  • Anemia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA

Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.

GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY Is also known as gsd due to glut2 deficiency|glycogenosis due to glut2 deficiency|gsd type 11|glycogen storage disease type 11|gsd type xi|glycogenosis, fanconi type|fanconi-bickel disease|hepatorenal glycogenosis with renal fanconi syndrome|hepatic glycogenosis with fanc

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY

Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.

PRIMARY HYPEROXALURIA TYPE 1 Is also known as glycolic aciduria|peroxisomal alanine:glyoxylate aminotransferase deficiency|peroxisomal alanine-glyoxylate aminotransferase deficiency|hepatic agt deficiency|alanine-glyoxylate aminotransferase deficiency|serine:pyruvate aminotransferase deficiency|oxalo

Related symptoms:

  • Failure to thrive
  • Pain
  • Anemia
  • Peripheral neuropathy
  • Fever


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY HYPEROXALURIA TYPE 1

MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Cytosolic phosphoenolpyruvate carboxykinase deficiency causes a defect in gluconeogenesis that results in a 'biochemical signature' of fasting hypoglycemia with high tricarboxylic acid cycle intermediate excretion, particularly of fumarate. Other biochemical anomalies that may be seen during metabolic crisis include ketonuria, dicarboxylic aciduria, and urea cycle dysfunction (Vieira et al., 2017).See PCKDM (OMIM ) for a discussion of mitochondrial PCK (PEPCK2 ) deficiency.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC; PCKDC Is also known as pepck deficiency, cytosolic|pck1 deficiency, cytosolic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC; PCKDC

Top 5 symptoms//phenotypes associated to Fever and Metabolic acidosis

Symptoms // Phenotype % cases
Acidosis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Hypoglycemia Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Metabolic acidosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Global developmental delay Failure to thrive Coma Lethargy Irritability Aciduria Encephalopathy Lactic acidosis Fatigue Anemia Hepatic steatosis Hyperuricemia Spasticity Hyperammonemia Dicarboxylic aciduria Optic atrophy Ketonuria

Rare Symptoms - Less than 30% cases

Abnormality of the coagulation cascade Visual impairment Abnormal pyramidal sign Diarrhea Nausea and vomiting Hepatic failure Pancreatitis Abnormality of the cerebral white matter Growth delay Immunodeficiency Intellectual disability Acute hepatic failure Macrovesicular hepatic steatosis Cerebral atrophy EEG abnormality Myopathy Recurrent infections Fasting hypoglycemia Apnea Respiratory distress Myoclonus Retinopathy Tachypnea Recurrent urinary tract infections Ketosis Severe lactic acidosis Abnormality of mitochondrial metabolism Impaired gluconeogenesis Pain Cutis marmorata Atrioventricular block Chills Pyelonephritis Optic neuropathy Pathologic fracture Heart block Enuresis Calcinosis Dysuria Peripheral arterial stenosis Raynaud phenomenon Acrocyanosis Gangrene Atherosclerosis Generalized aminoaciduria Nephrocalcinosis Abnormality of the skeletal system Hypergalactosemia Microalbuminuria Mild proteinuria Hyperphosphaturia Renal tubular dysfunction Albuminuria Galactosuria Hyperuricosuria Impairment of galactose metabolism Galactose intolerance Chronic acidosis Peripheral neuropathy Abnormality of the dentition Increased bone mineral density Renal insufficiency Abnormality of metabolism/homeostasis Decreased glomerular filtration rate Visual loss Stroke Stage 5 chronic kidney disease Nausea Hypouricemia Hematuria Polyneuropathy Progressive visual loss Nephrolithiasis Bone pain Choroidal neovascularization Ventriculomegaly Intermittent claudication Muscle weakness Leukoencephalopathy Hypoplasia of the brainstem Agitation Opisthotonus Episodic fever Loss of speech Pendular nystagmus Primitive reflex Psychomotor deterioration Diffuse leukoencephalopathy Frontoparietal polymicrogyria Progressive leukoencephalopathy Tremor Severe muscular hypotonia Abdominal pain Abnormality of the eye Abnormality of eye movement Gastrointestinal hemorrhage Cyanosis Generalized-onset seizure Hypoalbuminemia Ketoacidosis Portal fibrosis Hepatic encephalopathy Renal steatosis Ketotic hypoglycemia Spastic tetraparesis Leukodystrophy Flank pain Intrauterine growth retardation Calcium oxalate nephrolithiasis Hyperoxaluria Calcinosis cutis Arterial occlusion Abnormality of circulating enzyme level Bladder stones Retinal crystals Microcephaly Nystagmus Cognitive impairment High palate Feeding difficulties Poor appetite Tetraparesis Hypoplasia of the corpus callosum Edema Respiratory failure Polyhydramnios Retrognathia Muscular hypotonia of the trunk Developmental regression Arthrogryposis multiplex congenita Polymicrogyria Tetraplegia Brain atrophy Wide intermamillary distance Spastic tetraplegia Protuberant abdomen Osteoporosis Renal tubular acidosis Necrotizing myopathy Hyperkalemia Acute kidney injury Malignant hyperthermia Myoglobinuria Ventricular extrasystoles Hyperphosphatemia Supraventricular tachycardia Acute rhabdomyolysis Exercise-induced rhabdomyolysis Hypercapnia Elevated creatine kinase after exercise Intermittent painful muscle spasms Muscle stiffness Abnormality of skeletal muscles High-output congestive heart failure Abnormality of masseter muscle Cardiomyocyte mitochondrial proliferation Hearing impairment Sensorineural hearing impairment Hypertension Intellectual disability, mild Pneumonia Arthritis Pallor Ventricular tachycardia Hypoglycemic encephalopathy Decreased antibody level in blood Hyperventilation Chorea Cerebral visual impairment Shock Encephalitis Stomatitis Opsoclonus Muscular hypotonia Dyspnea Tachycardia Hyperbilirubinemia Drowsiness Neonatal hypoglycemia Respiratory arrest Neonatal hyperbilirubinemia Increased urinary glycerol Cardiomyopathy Arrhythmia Elevated serum creatine phosphokinase Hyperhidrosis Elevated hepatic transaminase Dilated cardiomyopathy Cardiomegaly Ventricular hypertrophy Loss of consciousness Hypoketotic hypoglycemia Autoimmunity Bilateral sensorineural hearing impairment Osteomalacia Aminoaciduria Obesity Constipation Severe short stature Osteopenia Hepatosplenomegaly Proteinuria Hyperlordosis Malabsorption Nephropathy Abdominal distention Increased body weight Hyperlipidemia Short stature Hypercholesterolemia Hypokalemia Elevated alkaline phosphatase Hypercalciuria Polydipsia Rickets Hyperglycemia Polyuria Bowing of the legs Hypophosphatemia Reduced subcutaneous adipose tissue Glycosuria Cataract Increased level of 3-hydroxy-3-methylglutaric acid in urine Pancytopenia Asthenia Lymphopenia Leukopenia Combined immunodeficiency Macrocytic anemia Thrombocytosis Severe combined immunodeficiency Antinuclear antibody positivity Megaloblastic anemia Anisocytosis Hemolytic-uremic syndrome Folate deficiency Septic arthritis Increased level of hippuric acid in urine Decreased methylcobalamin Thiamine-responsive megaloblastic anemia Dehydration Apathy Excessive daytime somnolence Recurrent hypoglycemia Organic aciduria Decreased plasma carnitine Acute pancreatitis Glutaric aciduria Nonketotic hypoglycemia 3-Methylglutaric aciduria Low plasma citrulline


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