Hyperreflexia, and Hypoglycemia

Diseases related with Hyperreflexia and Hypoglycemia

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

Top matches:

HYPOGLYCEMIA, LEUCINE-INDUCED; LIH Is also known as leucine-sensitive hypoglycemia of infancy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Strabismus
  • Spasticity


SOURCES: OMIM MESH MENDELIAN

More info about HYPOGLYCEMIA, LEUCINE-INDUCED; LIH

D-glyceric aciduria is a metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.

D-GLYCERIC ACIDURIA Is also known as d-glyceric acidemia|d-glycerate kinase deficiency|glycerate kinase deficiency

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about D-GLYCERIC ACIDURIA

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY Is also known as mcc1 deficiency|3-methylcrotonylglycinuria i|mccd|3-methylcrotonylglycinuria|methylcrotonylglycinuria type i|mccd type 1|mcc deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY

Other less relevant matches:

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY Is also known as ddc deficiency|aadc deficiency|dopa decarboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pain
  • Ptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.

ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY Is also known as adld|adult-onset autosomal dominant demyelinating leukodystrophy|pelizaeus-merzbacher disease, autosomal dominant or late-onset type, formerly

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY

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

Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion (Mandel et al., 2001).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Hypoglycemia

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Encephalopathy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Hypoglycemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Acidosis

Uncommon Symptoms - Between 30% and 50% cases

Metabolic acidosis Hypertonia Cerebral atrophy Feeding difficulties Vomiting Dystonia Spasticity Lactic acidosis Ataxia Failure to thrive Muscular hypotonia Leukodystrophy Growth delay Microcephaly Hearing impairment Spastic tetraplegia Elevated hepatic transaminase Cardiomyopathy Irritability Hypothermia Muscle weakness Nystagmus Athetosis Feeding difficulties in infancy Opisthotonus Increased serum lactate Lethargy Hyperammonemia Optic atrophy Aciduria Tetraplegia Dysarthria Hepatomegaly Muscular hypotonia of the trunk Fatigue Motor delay Tremor

Rare Symptoms - Less than 30% cases

Progressive neurologic deterioration Abnormal cerebellum morphology Clonus Severe lactic acidosis Organic aciduria Ketonuria Ketoacidosis Cardiac arrest Gait disturbance Limb hypertonia Abnormal autonomic nervous system physiology Constipation Babinski sign Drooling Pain Orthostatic hypotension Gait ataxia Hypertrophic cardiomyopathy Apathy Brisk reflexes Leukoencephalopathy Abnormality of the liver Hepatic failure Rigidity Hypotension Absent speech Thrombocytopenia Confusion Aminoaciduria Myoclonus Delayed speech and language development Gastroesophageal reflux Respiratory distress Drowsiness Diarrhea Edema Intellectual disability, severe Sensorineural hearing impairment Gliosis Coma Cerebral cortical atrophy Severe failure to thrive Epileptic spasms Delayed myelination Hemiparesis Diffuse leukoencephalopathy Autonomic bladder dysfunction Autonomic erectile dysfunction Myoglobinuria Cervical spinal cord atrophy Dilatation of the bladder Blindness Decreased sweating due to autonomic dysfunction Symmetric peripheral demyelination Abdominal pain Poor coordination Hyperactivity Torsade de pointes Orthostatic hypotension due to autonomic dysfunction Micronodular cirrhosis Prolonged QTc interval Premature pubarche Urinary incontinence Peripheral demyelination Tetraparesis Elevated plasma acylcarnitine levels Hypohidrosis Limb ataxia Paraparesis Spastic paraparesis Spastic tetraparesis Abnormality of the urinary system Personality changes Hyperactive deep tendon reflexes Impotence Urinary urgency Bowel incontinence Progressive spasticity Action tremor Heat intolerance Corpus callosum atrophy Acute rhabdomyolysis Neurogenic bladder Pseudobulbar paralysis Atrophy of the spinal cord Diffuse white matter abnormalities Attention deficit hyperactivity disorder Rhabdomyolysis Hypoalbuminemia Polyneuropathy Tachycardia Ascites Cholestasis Hypothyroidism Elevated serum creatine phosphokinase Arrhythmia Cognitive impairment External ophthalmoplegia Ragged-red muscle fibers Depletion of mitochondrial DNA in liver Cirrhosis Abnormal conjugate eye movement Portal hypertension Hyponatremia Abnormality of the coagulation cascade Progressive external ophthalmoplegia Mitochondrial myopathy Hepatocellular necrosis Episodic vomiting Periportal fibrosis Decreased activity of mitochondrial respiratory chain Hepatic steatosis Ophthalmoplegia Spastic diplegia Exertional dyspnea Generalized aminoaciduria Generalized muscle weakness Intention tremor Myopathic facies Decreased liver function Ventricular fibrillation Oral-pharyngeal dysphagia Incoordination Ventricular tachycardia Poor suck Polycythemia Abnormality of the nervous system Neonatal hypoglycemia Neurodegeneration Nephropathy Prolonged prothrombin time Vegetative state Methemoglobinemia Recurrent encephalopathy Myopathy Splenomegaly Jaundice Hyperbilirubinemia Hyperhidrosis Progressive cerebellar ataxia Renal insufficiency Failure to thrive in infancy Poor appetite Abnormality of the cerebral vasculature Neutrophilia Acute hepatic steatosis Episodic metabolic acidosis Acute hyperammonemia Abnormality of leucine metabolism Macrocephaly Congestive heart failure Pneumonia Involuntary movements Tachypnea CNS hypomyelination Renal tubular acidosis Periventricular leukomalacia Dysgraphia Hyperalaninemia Increased serum pyruvate Cystinuria Proximal renal tubular acidosis Increased head circumference Cerebral palsy Intellectual disability, profound Periventricular cysts Hyperglycinemia Strabismus Vertigo Hyperinsulinemic hypoglycemia Hypoglycemic seizures Neonatal hypotonia Autistic behavior Hypsarrhythmia Optic nerve hypoplasia Neonatal respiratory distress Poor eye contact Glutaric aciduria Focal-onset seizure Nonketotic hyperglycinemia Respiratory insufficiency Areflexia Respiratory failure Apnea Stroke Severe global developmental delay Abnormality of movement Nausea Brain atrophy Necrotizing encephalopathy Chronic metabolic acidosis Lower limb muscle weakness Vitreomacular adhesion Hyperkinesis Emotional lability Agitation Hypokinesia Limb dystonia Insomnia Miosis Nasal obstruction Temperature instability Decreased CSF homovanillic acid Intermittent hypothermia Abnormality of the face Peripheral neuropathy Dysphagia Intellectual disability, mild Depressivity Visual loss Mental deterioration Abnormal pyramidal sign Abnormality of the cerebral white matter Limb muscle weakness Paraplegia Muscle stiffness Choreoathetosis Congenital lactic acidosis Amblyopia Neuronal loss in the cerebral cortex Visual impairment Intrauterine growth retardation Skeletal muscle atrophy Ventriculomegaly Cerebellar atrophy Rod-cone dystrophy Aggressive behavior Neurological speech impairment Dysmetria Exotropia Cyanosis Generalized amyotrophy Diffuse cerebral atrophy Multifocal seizures Mitochondrial encephalopathy Ptosis Hypoplasia of the corpus callosum Abnormality of eye movement Sleep disturbance Chorea Syncope Premature thelarche


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