Fever, and Lactic acidosis

Diseases related with Fever and Lactic acidosis

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

Top matches:

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

Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.

OVERHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as ohs|potassium-sodium disorder of erythrocyte

Related symptoms:

  • Generalized hypotonia
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OVERHYDRATED HEREDITARY STOMATOCYTOSIS

Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.

CLASSIC MAPLE SYRUP URINE DISEASE Is also known as keto acid decarboxylase deficiency|classic branched-chain ketoaciduria|classic branched-chain alpha-ketoacid dehydrogenase deficiency|classic msud|bckd deficiency|classic bckd deficiency|branched-chain ketoaciduria|branched-chain alpha-keto acid dehydroge

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC MAPLE SYRUP URINE DISEASE

Other less relevant matches:

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

Medium match PROPIONIC ACIDEMIA

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Medium match MEVALONIC ACIDURIA

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

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

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Acidosis Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Vomiting Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Metabolic acidosis

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Hypoglycemia

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Coma

Common Symptoms - More than 50% cases

Encephalopathy

Uncommon Symptoms - Between 30% and 50% cases

Lethargy Cerebral atrophy Aciduria Muscular hypotonia Feeding difficulties Ketonuria Diarrhea Ataxia Edema Pain Optic atrophy Spasticity Ketosis Respiratory failure Irritability Short stature Myopathy Elevated hepatic transaminase Abnormality of the liver Tetraplegia Arrhythmia Hepatic failure Organic aciduria Growth delay Hypertonia Hyperammonemia Muscle weakness Rigidity Pancreatitis Abdominal pain Apnea Elevated serum creatine phosphokinase Tachypnea Microcephaly Severe lactic acidosis Abnormal facial shape Developmental regression Anemia Jaundice Ketoacidosis Hepatic steatosis

Rare Symptoms - Less than 30% cases

Retrognathia Spastic tetraparesis Myalgia Generalized-onset seizure Tetraparesis Recurrent infections Brain atrophy Fatigue Abnormality of the cerebral white matter Muscular hypotonia of the trunk Arthrogryposis multiplex congenita Abnormal pyramidal sign Tremor Leukodystrophy Abnormality of the eye Abnormality of the coagulation cascade Areflexia Ketotic hypoglycemia Severe failure to thrive Kyphoscoliosis Hyperlordosis Limb muscle weakness Muscle cramps Downslanted palpebral fissures Low-set ears Strabismus Ethylmalonic aciduria Ventricular fibrillation Rhabdomyolysis Acute kidney injury Myoglobinuria Respiratory arrest Cardiomyopathy Cataract Slurred speech Arthralgia Decreased liver function Clumsiness Increased serum lactate Gliosis Cerebellar atrophy Dysphagia Motor delay Episodic vomiting Stroke Thrombocytopenia Respiratory distress Proximal muscle weakness Intrauterine growth retardation Spastic tetraplegia Abnormality of mitochondrial metabolism Dehydration Headache Depressivity Osteoporosis Hyperactivity Feeding difficulties in infancy Respiratory tract infection Nausea and vomiting Hepatosplenomegaly Nausea Hepatitis Splenomegaly Impaired gluconeogenesis Weight loss Hyperbilirubinemia Increased level of hippuric acid in urine Opisthotonus Drowsiness Dyspnea Nystagmus Tachycardia High palate Delayed skeletal maturation Posteriorly rotated ears Cerebral cortical atrophy Obesity Abnormality of the nervous system Increased muscle lipid content Low-set, posteriorly rotated ears Reduced protein C activity Skin rash Leukemia Mixed respiratory and metabolic acidosis Elevated plasma acylcarnitine levels Dolichocephaly Glutaric acidemia Underdeveloped nasal alae Cataplexy Petechiae Narcolepsy Leukocytosis Large fontanelles Blue sclerae Nevus Malabsorption Gastrointestinal inflammation Arthralgia of the hip Progressive cerebellar ataxia Triangular face Retinal dystrophy Lymphadenopathy Pectus carinatum Hypotension Sinus tachycardia Abnormality of the sternum Defective dehydrogenation of isovaleryl CoA and butyryl CoA Lumbar hyperlordosis Hepatic periportal necrosis Lymphedema Abnormality of branched chain family amino acid metabolism Webbed neck Shock Ventricular arrhythmia Deep philtrum Fatigable weakness of neck muscles Myotonia Abnormal bleeding Myopathic facies Hyperkalemia Joint hypermobility Decreased fetal movement Hyperphosphatemia Long upper lip Congenital ptosis Diaphragmatic eventration Reye syndrome-like episodes Hypersarcosinemia Breech presentation Cholestatic liver disease Electron transfer flavoprotein-ubiquinone oxidoreductase defect Low hanging columella Thoracic kyphosis Muscular dystrophy Malignant hyperthermia Fatigable weakness of distal limb muscles Scaphocephaly Nuclear cataract Nonketotic hypoglycemia Agenesis of cerebellar vermis Acute pancreatitis Ragged-red muscle fibers Scapular winging Exercise intolerance Type I diabetes mellitus Cardiac arrest Loss of ability to walk Wide anterior fontanel Poor head control Anorexia Left ventricular hypertrophy Generalized aminoaciduria Renal dysplasia Oliguria Heterotopia Pachygyria Mutism Easy fatigability Cardiomegaly Exercise-induced myalgia Fatigable weakness Glycosuria Cardiorespiratory arrest Excessive daytime somnolence Difficulty climbing stairs Chronic fatigue Hypoketotic hypoglycemia Medulloblastoma Polycystic kidney dysplasia Restrictive ventilatory defect Proximal tubulopathy Stridor Abnormality of the renal tubule Abnormal corpus callosum morphology Hemiplegia Back pain Abnormality of the genital system Waddling gait Renal cortical cysts Chronic leukemia Dysarthria Depressed nasal bridge Normocytic hypoplastic anemia Fluctuating splenomegaly Fluctuating hepatomegaly Morbilliform rash Therapeutic abortion Macrocephaly Glutathione synthetase deficiency Progressive proximal muscle weakness Hypoplastic anemia Impaired mastication Normocytic anemia Limb tremor Extramedullary hematopoiesis Hypoglycemic coma Personality disorder Generalized muscle weakness Progressive spastic quadriplegia Renal cyst Pulmonary hypoplasia Joint hyperflexibility Congenital cataract Dilated cardiomyopathy Glutaric aciduria Abnormality of the pinna Hypertrophic cardiomyopathy Gait disturbance Telecanthus Difficulty walking High forehead Gait ataxia Behavioral abnormality Congestive heart failure Respiratory insufficiency Clonus Progressive neurologic deterioration Hyperhidrosis Episodic fever Frontoparietal polymicrogyria Diffuse leukoencephalopathy Psychomotor deterioration Primitive reflex Pendular nystagmus Loss of speech Agitation EEG abnormality Hypoplasia of the brainstem Leukoencephalopathy Severe muscular hypotonia Wide intermamillary distance Polymicrogyria Polyhydramnios Hypoplasia of the corpus callosum Progressive leukoencephalopathy Abnormality of eye movement Visual impairment Renal steatosis Decreased antibody level in blood Neutropenia Constipation Immunodeficiency Dystonia Low plasma citrulline Macrovesicular hepatic steatosis Gastrointestinal hemorrhage Dicarboxylic aciduria Hepatic encephalopathy Portal fibrosis Fasting hypoglycemia Acute hepatic failure Hypoalbuminemia Cyanosis Ventriculomegaly Cognitive impairment Eczema Nephropathy Anisocytosis Reticulocytosis Increased antibody level in blood Pulmonary fibrosis Brittle hair Hydrops fetalis Hemolytic anemia Poikilocytosis Cough Pallor Increased urinary glycerol Neonatal hyperbilirubinemia Neonatal hypoglycemia Hyperventilation Hyperuricemia Spherocytosis Stomatocytosis Elevated plasma branched chain amino acids Otitis media Cerebral edema Episodic ataxia Impulsivity Growth abnormality Increased intracranial pressure Cerebral palsy Hallucinations Postural instability Intermittent jaundice Ophthalmoplegia Anxiety Hypertension Increased intracellular sodium Increased red cell osmotic fragility Congenital hemolytic anemia Sideroblastic anemia Overgrowth Pancytopenia Pes cavus Fetal akinesia sequence Microvesicular hepatic steatosis 3-Methylglutaconic aciduria Bile duct proliferation Astrocytosis Gastrointestinal dysmotility Tics Increased CSF protein Gastric ulcer Progressive encephalopathy Abnormality of visual evoked potentials Celiac disease Progressive spasticity Spastic diplegia Akinesia Encephalitis Micronodular cirrhosis Chronic hepatitis Intellectual disability, progressive Flexion contracture Pectus excavatum Midface retrusion Dilatation Malar flattening Renal insufficiency Kyphosis Epicanthus Ptosis Multifocal seizures Cryptorchidism Hypertelorism Scoliosis Cerebral cortical neurodegeneration Epilepsia partialis continua Phonic tics Cerebral degeneration Abnormality of vision Spastic paraparesis Ischemic stroke Propionyl-CoA carboxylase deficiency Blindness Peripheral neuropathy Micrognathia Hearing impairment Propionicacidemia Intolerance to protein Cerebellar hemorrhage Pneumonia Hyperglycinuria Acute encephalopathy Hyperglycinemia Methylmalonic aciduria Limb hypertonia Poor appetite Abnormality of immune system physiology Visual loss Dementia Paraparesis Epileptic encephalopathy Cerebral visual impairment Hepatic fibrosis Cholestasis Choreoathetosis Hemiparesis Status epilepticus Neuronal loss in central nervous system Memory impairment Myoclonus Focal-onset seizure Neurodegeneration Cirrhosis Peripheral axonal neuropathy Abnormality of movement Generalized tonic-clonic seizures Paralysis Abnormality of blood glucose concentration


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