Confusion, drowsiness or vomiting in a child with known metabolic disease is an emergency. Go to hospital now. Metabolic crises worsen within hours. Also seek urgent care for jaundice with confusion in any child or young adult.
Inherited disorders in which a missing or faulty enzyme in the liver causes damage, either to the liver itself or to the brain and other organs. Several are treatable with medication and diet, and for some, transplant is a genuine cure.
These conditions are individually uncommon but collectively important, and they are more frequent where marriage between relatives is common — which includes several of the countries our patients travel from.
The liver runs much of the body's chemistry. Where an inherited fault disables one of its enzymes, the consequences depend on which pathway is affected — sometimes the liver damages itself, sometimes a toxic substance accumulates elsewhere.
Wilson's disease prevents copper being excreted, so it accumulates in the liver and brain. It can present as liver disease at any age from childhood onwards, or as tremor, difficulty speaking, abnormal movements or psychiatric change in adolescence. It is treatable with medication that removes copper, and it is one of the most important diagnoses not to miss because untreated it is fatal and treated it is compatible with a normal life.
Tyrosinaemia type 1 causes liver failure in infancy and a high risk of liver cancer. A specific drug transformed its outlook and, where started early, can avoid transplant altogether.
Urea cycle disorders prevent ammonia being cleared, causing episodes of confusion and coma. Glycogen storage diseases cause low blood sugar and an enlarged liver. In several of these conditions the liver itself works reasonably well but lacks one enzyme, and transplant replaces that enzyme permanently — which is why it can be curative rather than merely supportive.
It is treatable, it is fatal if missed, and it is regularly overlooked because it can present as liver disease, as a movement disorder, or as a psychiatric problem. Screening is simple: serum caeruloplasmin, twenty-four-hour urinary copper, and an eye examination with a slit lamp looking for Kayser-Fleischer rings. Any young person with unexplained liver disease, or with new tremor and slurred speech, should be tested. Siblings of an affected patient must also be screened, because they may be affected and still symptom-free — and treating them before damage occurs prevents it entirely.
Targeted tests, chosen by the pattern of presentation.
Whether the parents are related, whether any sibling or cousin has had similar problems, and whether there have been unexplained infant deaths in the family. These questions feel intrusive and they are genuinely important — consanguinity substantially raises the likelihood of a recessive metabolic disorder, and a family pattern often points directly to the diagnosis. Send that along with the blood results and any genetic testing.
For several of these conditions, medication and diet are the treatment and transplant is never needed.
Copper-removing drugs and zinc for Wilson's disease, which control it well when started before severe damage. Nitisinone for tyrosinaemia, which transformed its outlook. Protein restriction and ammonia-scavenging drugs for urea cycle disorders. Frequent feeding and cornstarch for glycogen storage disease. Started early, these can make transplant unnecessary.
Where the faulty enzyme lives in the liver, transplant replaces it permanently, and the child is effectively cured of the metabolic disease as well as the liver failure. This is different from transplant for cirrhosis, where the underlying cause may persist. It is a strong argument for transplant in selected metabolic conditions even where the liver itself is not badly damaged.
Episodes of high ammonia or low glucose need immediate treatment with intravenous glucose, ammonia-scavenging drugs and sometimes dialysis. Families should have a written emergency plan and a letter to present at any hospital, because these crises are not familiar to most emergency doctors.
Most of these conditions are recessive, meaning siblings have a one in four chance of being affected. Screening brothers and sisters can identify affected children before damage occurs — which in Wilson's disease means preventing it entirely. Genetic counselling helps parents understand the risk in future pregnancies.
These conditions are very different from one another. Precise diagnosis, ideally genetic, determines everything.
Where it does, transplant is unnecessary. Where control is poor or the liver is failing, transplant becomes the answer.
For enzyme deficiencies located in the liver, it does — which changes the calculation considerably compared with transplanting for cirrhosis.
If Wilson's disease is confirmed, we will recommend medical treatment and screening of siblings before any transplant discussion. Treated early, most patients never need one.
A metabolic crisis is treated where you are, immediately. Families should carry a written emergency protocol, because these conditions are unfamiliar to most emergency departments.
Photographs taken on your phone are fine. Reports in Arabic, Russian or Bengali are fine — we translate them ourselves.
It is worth investigating, particularly if the parents are related, if a sibling or cousin has had similar problems, or if there have been unexplained infant deaths in the family. Several inherited metabolic conditions cause liver disease and many are treatable. Genetic testing gives a definitive answer and allows accurate screening of other family members.
An inherited inability to excrete copper, which then accumulates in the liver and brain. It can present as liver disease, as tremor and slurred speech, or as psychiatric change, usually from childhood through early adulthood. It is treatable with medication that removes copper, and untreated it is fatal — which is why it must be considered in any unexplained liver disease under forty.
For several of them, yes — and this is genuinely different from transplant for cirrhosis. Where the missing enzyme normally lives in the liver, a transplanted liver supplies it permanently, correcting the underlying defect rather than just replacing a damaged organ. That makes transplant curative in selected metabolic conditions.
Yes. Most of these conditions are recessive, so each sibling has roughly a one in four chance of being affected, and they may be entirely well while damage is quietly accumulating. In Wilson's disease particularly, identifying and treating a sibling before symptoms appear prevents the disease from ever causing harm.
Follow the written emergency plan your metabolic team should have given you, and go to hospital early rather than waiting. Ordinary illnesses, fasting and infections precipitate metabolic crises, and these conditions are unfamiliar to most emergency doctors. Carry a letter explaining the diagnosis and the required emergency treatment.
It is relevant medical information rather than a criticism. Marriage between relatives increases the chance that both parents carry the same recessive gene, which raises the likelihood of these conditions in children. Knowing it helps doctors reach the right diagnosis faster, and it informs genetic counselling for future pregnancies.
Related pages: Organ transplant in India · Biliary atresia in babies · Acute liver failure · Liver cirrhosis · Transplant law in India
Send the liver function tests, ammonia and glucose results, and tell us whether the parents are related and whether any sibling is affected. Family history matters here.
Your reports go directly to our medical team. We do not share your records with hospitals until you tell us to.
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Coordinators available 9:00–20:00 IST. We speak Arabic, English, Russian and Bengali.