Tremor, and Metabolic acidosis

Diseases related with Tremor and Metabolic acidosis

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


Top matches:

Low match VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblA and cblB (OMIM ), which is caused by mutation in the MMAB gene (OMIM ) on 12q24. See also cblH (OMIM ), which may be a subset of cblA. The 'mut' form of MMA (OMIM ) is caused by mutation in the MUT gene on chromosome 6p. In general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA Is also known as methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla type|vitamin b12-responsive methylmalonic aciduria type cbla|methylmalonic acidemia, cbla type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77


Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77 Is also known as spg77

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77

Low match HYPERINSULINISM DUE TO HNF4A DEFICIENCY


Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term).

HYPERINSULINISM DUE TO HNF4A DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to hnf4a deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hepatomegaly
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO HNF4A DEFICIENCY

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA


Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).

GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA Is also known as 5-oxoprolinuria|pyroglutamic aciduria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA

Low match EAST SYNDROME


SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).

EAST SYNDROME Is also known as sesame syndrome|epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome|seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|east syndrome|epilepsy, ataxia, sensorineural deafness, and tubulopathy

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EAST SYNDROME

Low match FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3


Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3 Is also known as fatal mitochondrial disease due to coxpd3|encephalomyopathy, respiratory failure, and lactic acidosis|concentric cardiomyopathy, hypotonia, and lactic acidosis

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3

Low match NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY


Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY

Low match HSD10 MITOCHONDRIAL DISEASE; HSD10MD


HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; review by Zschocke, 2012).In a review of the disorder, Zschocke (2012) noted that although this disorder was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS below).

HSD10 MITOCHONDRIAL DISEASE; HSD10MD Is also known as hsd17b10 deficiency|mhbd deficiency|2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency|camr|mental retardation with chorioathetosis and abnormal behavior|mental retardation, x-linked, syndromic 10|17-beta-hydroxysteroid dehydrogenase x deficiency|chor

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD

Low match DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD


DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). This is the result of E3 being a common component of all 3 mitochondrial multienzyme complexes. Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. E3 deficiency is often associated with increased urinary excretion of alpha-keto acids, such as pyruvate (summary by Hong et al., 1996). E3 deficiency can also be associated with increased concentrations of branched-chain amino acids, as observed in maple syrup urine disease (MSUD ), and is sometimes referred to as 'MSUD type III,' although patients with E3 deficiency have additional biochemical defects (Chuang and Shih, 2001; Robinson, 2001).

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD Is also known as maple syrup urine disease, type iii|e3 deficiency|lipoamide dehydrogenase deficiency, lactic acidosis due to|dld deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD

Low match PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC; PCKDC


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 Tremor and Metabolic acidosis

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Acidosis Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Aciduria

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy Lethargy Intellectual disability Dystonia Hepatomegaly Failure to thrive Encephalopathy Intention tremor Progressive neurologic deterioration Lactic acidosis Fatigue Feeding difficulties Cardiomyopathy Hypertonia Gait ataxia Hypoglycemia Dysarthria Delayed speech and language development Coma Cerebral atrophy Muscle weakness Blindness Hypertrophic cardiomyopathy Hearing impairment

Rare Symptoms - Less than 30% cases


Hepatic failure Proteinuria Neonatal hypoglycemia Fasting hypoglycemia Glycosuria Pain Agitation Tetraparesis Spastic tetraparesis Tetraplegia Sensorineural hearing impairment Motor delay Peripheral neuropathy Peripheral axonal neuropathy Generalized-onset seizure Spastic tetraplegia Neonatal hypotonia Neurodegeneration Developmental regression Myoclonus Cognitive impairment Ventriculomegaly Nystagmus Increased serum lactate Severe lactic acidosis Elevated hepatic transaminase Abdominal pain Apathy Neutropenia Spasticity Hyperreflexia Dysmetria Ketonuria Hyperammonemia Strabismus Apnea Muscular hypotonia of the trunk Dehydration Abnormality of mitochondrial metabolism Diarrhea Feeding difficulties in infancy Anemia Respiratory distress Truncal ataxia Aminoaciduria Hypoalbuminemia Abnormality of the vertebral column Progressive encephalopathy Acute encephalopathy Titubation Myopathy Visual loss Decreased activity of the pyruvate dehydrogenase complex Absent speech Encephalomalacia Dysphagia Intellectual disability, mild Abnormal vertebral morphology Portal fibrosis Tetralogy of Fallot Epicanthus Decreased activity of mitochondrial complex I Concentric hypertrophic cardiomyopathy Decreased activity of mitochondrial complex III Decreased activity of mitochondrial complex IV Impaired gluconeogenesis Abnormal facial shape Cryptorchidism Ketotic hypoglycemia Abnormality of the coagulation cascade Edema Renal steatosis Macrovesicular hepatic steatosis Dicarboxylic aciduria Hepatic encephalopathy Agenesis of corpus callosum Acute hepatic failure Ketoacidosis Cerebral cortical atrophy Hypothermia Cyanosis Methemoglobinemia EEG abnormality Hyperactivity Optic neuropathy Abnormality of the liver Fever Attention deficit hyperactivity disorder Recurrent encephalopathy Generalized muscle weakness Decreased liver function Abnormality of the eye Vegetative state Incoordination Poor suck Brisk reflexes Opisthotonus Prolonged prothrombin time Exertional dyspnea Polycythemia Organic aciduria Microcephaly Progressive choreoathetosis Rigidity Horizontal nystagmus Aggressive behavior Hepatic steatosis Neurological speech impairment Abnormality of eye movement Abnormality of movement Retinal degeneration Chorea Choreoathetosis Hallucinations Drooling Persistent lactic acidosis Athetosis Abnormal pyramidal sign Restlessness Irritability Mitochondrial myopathy Diffuse cerebral atrophy Gastrointestinal dysmotility Loss of ability to walk Abnormal mitochondrial morphology Gastrointestinal hemorrhage Increased circulating renin level Rhabdomyolysis Hypoketotic hypoglycemia Hyperhidrosis Pallor Tachycardia Increased body weight Elevated alkaline phosphatase Hyperinsulinemia Large for gestational age Drowsiness Hyperinsulinemic hypoglycemia Hypophosphatemic rickets Vertebral fusion Pancreatic islet-cell hyperplasia Renal Fanconi syndrome Abnormality of fatty-acid metabolism Increased hepatic glycogen content Metabolic ketoacidosis Splenomegaly Recurrent infections Nausea Falls Lower limb amyotrophy Poor head control Sepsis Scoliosis Thrombocytopenia Pancytopenia Ketosis Methylmalonic aciduria Homocystinuria Hyperglycinemia Methylmalonic acidemia Decreased adenosylcobalamin Decreased methylmalonyl-CoA mutase activity Ptosis Cerebral palsy Skeletal muscle atrophy Gait disturbance Babinski sign Retrognathia Small for gestational age Spastic paraplegia Paraplegia Urinary incontinence Bradykinesia Lower limb spasticity Hemolytic anemia Pigmentary retinopathy Patent foramen ovale Visual impairment Abnormality of the renal tubule Hypocalciuria Hypokalemic metabolic alkalosis Chronic axonal neuropathy Renal potassium wasting Peripheral hypomyelination Salt craving Renal sodium wasting Growth delay Intrauterine growth retardation Metabolic alkalosis Respiratory insufficiency Patent ductus arteriosus Elevated serum creatine phosphokinase Respiratory failure Dilated cardiomyopathy Decreased fetal movement Sensorimotor neuropathy Severe muscular hypotonia Ragged-red muscle fibers Abnormality of the mitochondrion Enuresis Recurrent bacterial infections Cerebellar atrophy Renal tubular acidosis Increased reactive oxygen species production Compensated hemolytic anemia Chronic metabolic acidosis Glutathione synthetase deficiency Psychotic mentation Increased level of L-pyroglutamic acid in urine Short stature Hypertension Intellectual disability, moderate Alkalosis Generalized tonic-clonic seizures Postural instability CNS hypomyelination Hypokalemia Dysdiadochokinesis Polydipsia Polyuria Hyperaldosteronism Hypomagnesemia Renal salt wasting Low plasma citrulline



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Ophthalmoplegia, related diseases and genetic alterations Macrocephaly and Aggressive behavior, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more