Generalized hypotonia, and Metabolic acidosis

Diseases related with Generalized hypotonia and Metabolic acidosis

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

Top matches:

Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia.

PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY Is also known as pdhbd|pyruvate dehydrogenase complex e1 component subunit beta deficiency

Related symptoms:

  • Generalized hypotonia
  • Agenesis of corpus callosum
  • Acidosis
  • Lactic acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY

Carbonic anhydrase VA deficiency is an autosomal recessive inborn error of metabolism characterized clinically by acute onset of encephalopathy in infancy or early childhood. Biochemical evaluation shows multiple metabolic abnormalities, including metabolic acidosis and respiratory alkalosis. Other abnormalities include hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Apart from episodic acute events in early childhood, the disorder shows a relatively benign course. Treatment with carglumic acid can result in neurologic improvement (summary by van Karnebeek et al., 2014).

HYPERAMMONEMIC ENCEPHALOPATHY DUE TO CARBONIC ANHYDRASE VA DEFICIENCY Is also known as ca-va deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Delayed speech and language development
  • Encephalopathy
  • Acidosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPERAMMONEMIC ENCEPHALOPATHY DUE TO CARBONIC ANHYDRASE VA DEFICIENCY

Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.

CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME Is also known as mpcd

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME

Other less relevant matches:

Medium 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

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Feeding difficulties
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about SUDDEN CARDIAC FAILURE, INFANTILE; SCFI

Multiple mitochondrial dysfunctions syndrome is a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death (summary by Seyda et al., 2001). Genetic Heterogeneity of Multiple Mitochondrial Dysfunctions SyndromeSee also MMDS2 (OMIM ), caused by mutation in the BOLA3 gene (OMIM ) on chromosome 2p13; MMDS3 (OMIM ), caused by mutation in the IBA57 gene (OMIM ) on chromosome 1q42; MMDS4 (OMIM ), caused by mutation in the ISCA2 gene (OMIM ) on chromosome 14q24; MMDS5 (OMIM ), caused by mutation in the ISCA1 gene (OMIM ) on chromosome 9q21; and MMDS6 (OMIM ), caused by mutation in the PMPCB gene (OMIM ) on chromosome 7q22.

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1 Is also known as mmds

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1

Medium match MALONIC ACIDURIA

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

Maternal riboflavin deficiency is a rare, genetic disorder of metabolite absorption or transport characterized by persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances.

Related symptoms:

  • Generalized hypotonia
  • Vomiting
  • Acidosis
  • Photophobia
  • Hypoglycemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL RIBOFLAVIN DEFICIENCY

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

Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.

ACUTE INFANTILE LIVER FAILURE DUE TO SYNTHESIS DEFECT OF MTDNA-ENCODED PROTEINS Is also known as acute infantile liver failure due to synthesis defect of mitochondrial dna-encoded proteins

Related symptoms:

  • Generalized hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Myopathy
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE DUE TO SYNTHESIS DEFECT OF MTDNA-ENCODED PROTEINS

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Metabolic acidosis

Symptoms // Phenotype % cases
Acidosis Very Common - Between 80% and 100% cases
Lactic acidosis Very Common - Between 80% and 100% cases
Hypoglycemia Common - Between 50% and 80% cases
Increased serum lactate Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Feeding difficulties Global developmental delay Failure to thrive Lethargy Cardiomyopathy Myopathy Irritability Hypertrophic cardiomyopathy Seizures

Rare Symptoms - Less than 30% cases

Congestive heart failure Short stature Hepatomegaly Aciduria Hyperbilirubinemia Severe lactic acidosis Hyperammonemia Tachypnea Muscular hypotonia of the trunk Ketosis Vitamin B2 deficiency Dyspnea Heterotopia Recurrent urinary tract infections Fever Poor appetite Apnea Hyperemesis gravidarum Inflammatory abnormality of the skin Dicarboxylic aciduria Chronic constipation Hypothermia Poor suck Episodic vomiting Photophobia Elevated plasma acylcarnitine levels Increased urinary glycerol Tachycardia Hepatic steatosis Macrovesicular hepatic steatosis Hypersplenism Microvesicular hepatic steatosis Conjugated hyperbilirubinemia Acute hepatic failure Mitochondrial myopathy Abnormality of the coagulation cascade Hypoalbuminemia Abdominal distention Ascites Hepatic failure Coma Feeding difficulties in infancy Elevated hepatic transaminase Jaundice Febrile seizures Impaired gluconeogenesis Neonatal hyperbilirubinemia Neonatal hypoglycemia Hyperventilation Drowsiness Hyperuricemia Pachygyria Hypertension Abdominal pain Respiratory insufficiency Skeletal muscle atrophy Spasticity Ataxia Low-output congestive heart failure Abnormal mitochondrial shape Abnormality of the mitochondrion Severe muscular hypotonia Cyanosis Respiratory distress Respiratory alkalosis Hypertonia Acute encephalopathy Hyperalaninemia Alkalosis Ketonuria Ketoacidosis Encephalopathy Delayed speech and language development Respiratory arrest Stridor Hydrocephalus Abnormality of movement Constipation Muscle weakness Diarrhea Pain Decreased activity of the pyruvate dehydrogenase complex Decreased activity of mitochondrial respiratory chain Recurrent hypoglycemia Pulmonary arterial hypertension Peripheral demyelination Respiratory failure Agenesis of corpus callosum Myocardial fibrosis Abnormal salivary gland morphology Myocarditis Nemaline bodies Cardiac arrest Bradycardia Otitis media Dilated cardiomyopathy Arrhythmia Abnormality of Krebs cycle metabolism Abnormal urine alpha-ketoglutarate concentration Congenital lactic acidosis Mitochondrial respiratory chain defects


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