Ataxia, and Metabolic acidosis

Diseases related with Ataxia and Metabolic acidosis

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


Top matches:

Low match OXOGLUTARIC ACIDURIA


Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.

OXOGLUTARIC ACIDURIA Is also known as 2-ketoglutarate dehydrogenase deficiency|alpha-kgd deficiency|oxoglutaric aciduria|alpha-ketoglutarate dehydrogenase deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OXOGLUTARIC ACIDURIA

Low match MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME


Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.

MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME Is also known as mitochondrial myopathy-lactic acidosis-hearing loss syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME

Low match VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB


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 cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; 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 ), and cblF (OMIM ).

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB

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Other less relevant matches:

Low match HYDROXYKYNURENINURIA


Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.

HYDROXYKYNURENINURIA Is also known as kynureninase deficiency, partial|kynureninase deficiency|xanthurenic aciduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HYDROXYKYNURENINURIA

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 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY


Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Is also known as multiple carboxylase deficiency, neonatal form|hlcs deficiency|neonatal multiple carboxylase deficiency|multiple carboxylase deficiency, early onset|early-onset multiple carboxylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

Low match FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA


Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.

FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA Is also known as lactic acidosis, fatal infantile, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA

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 MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY


Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

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

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

Symptoms // Phenotype % 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
Seizures Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Vomiting Lactic acidosis Encephalopathy Hypertonia Aciduria Failure to thrive Skeletal muscle atrophy Dystonia Respiratory distress Hearing impairment Coma Feeding difficulties Tremor Dysarthria Muscle weakness Intention tremor Hypoglycemia Muscular hypotonia of the trunk Growth delay Increased serum lactate

Rare Symptoms - Less than 30% cases


Neutropenia Cardiomyopathy Progressive neurologic deterioration Thrombocytopenia Feeding difficulties in infancy Lethargy Delayed speech and language development Severe lactic acidosis Small for gestational age Hyperammonemia Abnormality of mitochondrial metabolism Ketonuria Abnormality of the mitochondrion Tachycardia Renal tubular acidosis Motor delay Short stature Hepatomegaly Methylmalonic aciduria Anemia Congenital lactic acidosis Hyperalaninemia Dysmetria Sensorineural hearing impairment Fatigue Tetraparesis Hemolytic anemia Hypokalemic metabolic alkalosis Sepsis Pigmentary retinopathy Spastic tetraparesis Recurrent bacterial infections Nausea Increased reactive oxygen species production Compensated hemolytic anemia Chronic metabolic acidosis Glutathione synthetase deficiency Hypocalciuria Psychotic mentation Falls Recurrent infections Chronic axonal neuropathy Hypophosphatemia Mental deterioration Salt craving Severe global developmental delay Unsteady gait Abnormality of the skin Peripheral hypomyelination Shock Muscle fibrillation Cognitive impairment Renal potassium wasting Necrotizing encephalopathy Poor motor coordination Episodic metabolic acidosis Renal aminoaciduria Intermittent hyperpnea at rest Splenomegaly Increased level of L-pyroglutamic acid in urine Optic atrophy Increased circulating renin level Peripheral axonal neuropathy Intellectual disability, moderate Enuresis Respiratory failure Alkalosis Generalized tonic-clonic seizures Renal salt wasting Hypomagnesemia Postural instability Gait ataxia Hyperaldosteronism Glycosuria Polyuria Polydipsia Dysdiadochokinesis Hypokalemia CNS hypomyelination Proteinuria Cerebellar atrophy Generalized-onset seizure Bradycardia Congestive heart failure Arrhythmia Hypertrophic cardiomyopathy Poor speech Ascites Cardiomegaly Abnormality of the renal tubule Infantile muscular hypotonia Peripheral neuropathy Pleural effusion Aspiration pneumonia Wolff-Parkinson-White syndrome Sinus bradycardia Decreased activity of mitochondrial respiratory chain Hypertension Metabolic alkalosis Abnormality of the nervous system Cerebral palsy Hyperhidrosis Decreased methylmalonyl-CoA mutase activity Dehydration Pancytopenia Ketosis Homocystinuria Hyperglycinemia Methylmalonic acidemia Decreased adenosylcobalamin Headache Vaginal fistula Jaundice Dry skin Hypotension Stereotypy Aminoaciduria Congenital sensorineural hearing impairment Abnormality of the musculature Moderate sensorineural hearing impairment Increased serum pyruvate Renal tubular dysfunction Postnatal growth retardation Hydrocephalus Abnormality of movement Abnormal salivary gland morphology Abnormal urine alpha-ketoglutarate concentration Abnormality of Krebs cycle metabolism Myopathy Proximal muscle weakness Focal-onset seizure Episodic vomiting Hemiparesis EMG abnormality Ragged-red muscle fibers Focal impaired awareness seizure Gowers sign Toe walking Mitochondrial myopathy Progressive proximal muscle weakness Progressive encephalopathy Abnormality of the respiratory system Obesity Tachypnea Irritability Skin rash Hypotrichosis Nausea and vomiting Eczema Inflammatory abnormality of the skin Anorexia Hyperventilation Alopecia Organic aciduria Keratoconjunctivitis Desquamation of skin soon after birth Perioral eczema Respiratory insufficiency Intellectual disability, severe Cerebral atrophy Weight loss Lower limb amyotrophy Stomatitis Gait disturbance Breathing dysregulation Nonprogressive encephalopathy Abnormality of tryptophan metabolism Scoliosis Strabismus Ptosis Hyperreflexia Babinski sign Vertebral fusion Retrognathia Apnea Spastic paraplegia Paraplegia Urinary incontinence Bradykinesia Lower limb spasticity Poor head control Renal sodium wasting



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