biology

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a biology topic covered in the lgStudy science library. This page brings together a partial reference excerpt, illustrations, worked examples, real-world applications and a short study plan, so you can understand Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome rather than just read about it. In short: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome (sometimes referred to as TANGO2 Deficiency) is a rare metabolic and genetic disorder which is caused by mutation in a gene TANGO2. Main signs of this disorder are: Intellectual disability, ataxia, underactive thyroid, and life-threatening episodes of metabolic and cardiac crises, rhabdomyolysis.

Key takeaways

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome belongs to biology; place it in that map before memorising details.
Learn the definition first, then one example that makes the definition concrete.
Connect Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome to a quantity you can measure, compute or draw — that is where exam questions come from.
Reproduce the core statement of Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome from memory before moving on to harder problems.

Reference excerpt

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome (sometimes referred to as TANGO2 Deficiency) is a rare metabolic and genetic disorder which is caused by mutation in a gene TANGO2. Main signs of this disorder are: Intellectual disability, ataxia, underactive thyroid, and life-threatening episodes of metabolic and cardiac crises, rhabdomyolysis. The syndrome affects about 1/1 000 000 births, with about 110 cases having been reported worldwide (at the time of articles publication as February 28, 2025).

Symptoms Symptoms of this disorder might include: Very frequent:

Abnormal ECG Elevated blood creatine phosphokinase Global developmental delay Intellectual disability Ketone bodies in urine Abnormally increased level of blood lactate Frequent:

Extrapyramidal signs Rhabdomyolysis, acute Ataxia Irregular heart beat Mild hypothyroidism Loss of milestones Delayed speech and language acquisition Delayed walking Abnormal liver enzymes Gastrointestinal dysmotility Generalised brain atrophy High blood ammonia levels Low blood sugar Involuntary muscle contractions Increased lactate in body Prolonged QT interval Seizure Occasional:

Lazy eye Positive Babinski sign Generalised convulsion Cortical visual impairment Involuntary rhythmic muscular contractions and relaxations Swallowing difficulties Dystonic movements Elevated plasma acylcarnitine levels Increased deep tendon reflexes Increased muscle tone Infantile spasms Involuntary, rapid, rhythmic eye movements Optic-nerve degeneration Stroke Supranuclear gaze paralysis Very rare:

Decreased size of head Sensorineural deafness Also, most of the patients experience so called "TANGO2 spells", which include episodes of difficulty in maintaining the position of the head, salivation, exhaustion, and decreased alertness and it can be triggered by fasting, dehydration, exposure to excessive heat, infections, and ketogenic diet.

Cause This disorder is caused by a mutation in a gene, TANGO2, which codes for protein Transport and golgi organization 2 homolog, and its located on chromosome 22. According to one study, exons 3-9 are frequently deleted in people of European origin and Hispanic ethnicity, although in Hispanic ethnicity c.460G>A (which is expressed as p.Gly154Arg, which means that on position 154, glycine is changed to arginine) is also frequent. Also, people with 22q11.2DS (DiGeorge syndrome) are at risk of developing this disorder because of hemizygosity (which means that they express only one copy of that gene, consequently chances of getting this disorder is higher).

Pathophysiology TANGO2 plays role in mitochondrial β-oxidation, consequently in that disease, β-oxidation and ATP levels are reduced (especially under stress). Interestingly TANGO2 also might participate in retrograde ER-Golgi trafficking, consequently this process is slowed down in this disease, and the supplementation of TANGO2 has restored that process. According to one study, TANGO2 also might participate in autophagy process, which might be responsible for rhabdomyolysis in this disease.

Diagnosis This disorder can be suspected by symptoms, although diagnosis can be confirmed by a genetic testing. Also, diagnosis is usually made after first episode of life-threatening symptoms (such as arrhythmia).

Treatment This disease doesn't have a cure. Although symptom management is available, and this might include:

Supplementation of all B vitamins, such as B5 and B9, because they might alleviate some of the symptoms (such as arrhythmia). Levothyroxine for Hypothyroidism Supportive treatment for developmental delays Antiseizure medication

Prognosis Life expectancy is limited because the risk of fatal arrhythmia is unpredictable and according to one study median age of death was 6.5 years old.

History Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome was first identified in 2016.

References

Illustrations

Worked examples

Example 1 — a first encounter with Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

Start with the simplest possible case. Write down what Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome claims or describes in one sentence, then invent the smallest concrete situation in which that sentence is true. In biology, the smallest case is usually a single object, a single equation or a single measurement. Check that every symbol or term in your sentence has a meaning in that case.

Example 2 — changing one variable

Take the situation from Example 1 and change exactly one quantity: double it, halve it, or set it to zero. Predict what should happen to Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome before you calculate. Comparing your prediction with the result is the fastest way to find out whether you understand the idea or only the words.

Example 3 — an exam-style question

Typical questions about Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome ask you to (a) state it precisely, (b) apply it to given data, and (c) explain a limitation. Practise writing all three answers in under five minutes; the third part is what separates a full-mark answer from an average one.

Applications of Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

In research: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome appears in biology research whenever the underlying quantities have to be modelled precisely. Papers usually cite it as a starting assumption and then explore where it breaks down.
In technology and industry: Engineering practice reuses Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome in design rules, simulations and safety margins. Knowing the idea lets you read a specification sheet and understand why the numbers look the way they do.
In the classroom: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is common in secondary-school and first-year university syllabi. It links to neighbouring topics Autosomal recessive disorders, Genetic diseases and disorders, Intellectual disability, so understanding it makes those chapters shorter.
In everyday life: Look for Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome outside the textbook — in sport, cooking, traffic, electronics or the sky above you. An example you found yourself is remembered far longer than one you were given.

Affiliate

Preply — study more efficiently by working with a personal tutor. 50% off.

How to study Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome in 20 minutes

Read the reference excerpt below once, without taking notes.
Close the page and write down what Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome means in your own words.
Compare your version with the excerpt and mark what you missed.
Work through the three examples above with pen and paper.
Explain Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome out loud to somebody else — or to Teacher Smith in the lgStudy chat.

Frequently asked questions

What is Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome in simple terms?

Why does Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome matter?

Because it connects several biology ideas at once: it gives you a definition you can apply, a quantity you can calculate, and a way to check whether a result is plausible.

How should I study Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome?

Read the excerpt, restate it from memory, then work through the examples and applications listed on this page. The five-step study plan above takes about twenty minutes.

What does this page cover?

It gives you a compact reference excerpt plus original lgStudy explanations, examples, applications and study material on Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome.