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Betegségjelentés · Metabolic

HIBCH Deficiency (Valine Metabolism Disorder)

Whole genome sequencing reads the HIBCH gene for inherited changes that cause HIBCH deficiency, a rare metabolic disorder that usually starts in infancy and mainly affects the brain.

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A(z) condition ismertetése

A rare inherited metabolic disorder in which the body cannot properly break down the amino acid valine, leading to a build-up of by-products that mainly affect the brain, most often starting in infancy. It is caused by changes in both copies of the HIBCH gene.

HIBCH deficiency is a rare inherited metabolic disorder in which the body cannot properly break down the amino acid valine. By-products build up and mainly affect the brain. It usually begins in infancy, with low muscle tone, feeding difficulties and developmental delay.

The condition is caused by changes in both copies of HIBCH, which makes an enzyme in the valine breakdown pathway. It is a mitochondrial disorder, which means it affects the energy-producing parts of cells.

Episodes of neurological deterioration can occur. Brain imaging typically shows changes in the basal ganglia that look similar to Leigh syndrome, and movement problems such as dystonia are common. Seizures and eye movement problems can also occur, and the condition is grouped by age of onset into neonatal, infantile and late-onset forms.

Care is led by a metabolic specialist and may include a valine-restricted diet, alongside physiotherapy and developmental support. Medical formula can be used successfully when started in the first few months of life, and genetic counselling and carrier testing for relatives are offered.

A vizsgált betegség

3-Hydroxyisobutyryl-CoA Hydrolase Deficiency

Autoszomális recesszív

Caused by changes in both copies of the HIBCH gene, which makes an enzyme in the valine breakdown pathway. It is a rare mitochondrial disorder of valine metabolism.

Tünetek és jelek

Usually begins in infancy with low muscle tone, feeding difficulties and developmental delay, often followed by episodes of neurological deterioration. Brain imaging typically shows changes in the basal ganglia similar to Leigh syndrome, and movement problems such as dystonia are common. Seizures and eye movement problems can also occur.

Mit változtat a diagnózis

Care is led by a metabolic specialist and may include a valine-restricted diet, alongside physiotherapy and developmental support; preventing catabolism during illness may help. Both parents are usually carriers, so genetic counselling and carrier testing for relatives are offered.

Vizsgált gének

Más néven

Beta-hydroxyisobutyryl-CoA deacylase deficiency; HIBCH deficiency; HIBCHD; methacrylic aciduria; neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

MONDO:0009603OMIM 250620Orphanet 88639MedGen 83349Források: [1][2][3]

Miért a teljes genom szekvenálás

HIBCH deficiency is inherited in a recessive way, and early diagnosis matters because dietary treatment can be started successfully in the first months of life. Whole genome sequencing reads HIBCH in one test.

Medicines and diets to avoid

The report advises avoiding sodium valproate where possible, as well as ketogenic and modified Atkins diets. Triheptanoin is contraindicated, and prolonged propofol and lactate-containing agents should also be avoided.

Testing relatives early

At-risk newborns and older sibs should be evaluated early, so that those who would benefit can start targeted therapy promptly. Once the HIBCH changes are identified, carrier testing for relatives and prenatal testing are possible.

Hivatkozások

  1. Abdenur J, Barrick R, 2025. 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency. GeneReviews
  2. Casano KR, Ryan ME, Bicknese AR, Mithal DS, 2023. MRI of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency. Radiology case reports
  3. Çakar NE, Görükmez O, 2022. 3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) Deficiency Cases Diagnosed by Only HIBCH Gene Analysis and Novel Pathogenic Mutation. Annals of Indian Academy of Neurology

További metabolic conditions

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Egy csomag, házhoz szállítva. Az egész genomját a diagnosztikai döntésekhez használt klinikai színvonalon szekvenáljuk. Orvos számára is használható jelentéseit 6–8 héten belül küldjük el a Genome Manager-be. Ezek tartósan érvényesek, és a tudomány fejlődésével frissülnek.

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