Thiamine responsive megaloblastic anemia syndrome (also known as Rogers syndrome) is a very rare

autosomal recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

genetic disorder affecting a thiamine transporter, which is characterized by

megaloblastic anemia Megaloblastic anemia is a type of macrocytic anemia. An anemia is a red blood cell defect that can lead to an undersupply of oxygen. Megaloblastic anemia results from inhibition of DNA replication, DNA synthesis during red blood cell production. ...

diabetes mellitus Diabetes mellitus, commonly known as diabetes, is a group of common endocrine diseases characterized by sustained hyperglycemia, high blood sugar levels. Diabetes is due to either the pancreas not producing enough of the hormone insulin, or th ...

, and

hearing loss Hearing loss is a partial or total inability to hear. Hearing loss may be present at birth or acquired at any time afterwards. Hearing loss may occur in one or both ears. In children, hearing problems can affect the ability to acquire spo ...

. The condition is treated with high doses of

thiamine Thiamine, also known as thiamin and vitamin B1, is a vitamin – an Nutrient#Micronutrients, essential micronutrient for humans and animals. It is found in food and commercially synthesized to be a dietary supplement or medication. Phosp ...

(vitamin B1).

Signs and symptoms

In most cases (80-99%), people with this condition experience poor appetite (anorexia),

diarrhea Diarrhea (American English), also spelled diarrhoea or diarrhœa (British English), is the condition of having at least three loose, liquid, or watery bowel movements in a day. It often lasts for a few days and can result in dehydration d ...

, headache, and lethargy. Thiamine responsive megaloblastic anemia syndrome is associated with progressive

sensorineural hearing loss Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner ear, sensory organ (cochlea and associated structures), or the vestibulocochlear nerve (Cranial nerves, cranial nerve VIII). SNHL accounts for a ...

. Additional manifestations include

optic atrophy Optic neuropathy is damage to the optic nerve from any cause. The optic nerve is a bundle of millions of fibers in the retina that sends visual signals to the brain. Damage and death of these nerve cells, or neurons, leads to characteristic featu ...

, short stature,

enlarged liver Hepatomegaly is enlargement of the liver. It is a non-specific medical sign, having many causes, which can broadly be broken down into infection, hepatic tumours, and metabolic disorder. Often, hepatomegaly presents as an abdominal mass. Dependi ...

, and an

enlarged spleen Splenomegaly is an enlargement of the spleen. The spleen usually lies in the left upper quadrant (LUQ) of the human abdomen. Splenomegaly is one of the four cardinal signs of ''hypersplenism'' which include: some reduction in number of circulatin ...

. Some cases may affect the heart, leading to abnormal heart rhythms.

Genetics

The condition is inherited in an autosomal recessive fashion, and is caused by a mutation in the ''

SLC19A2 Thiamine transporter 1, also known as thiamine carrier 1 (TC1) or solute carrier family 19 member 2 (SLC19A2) is a protein that in humans is encoded by the ''SLC19A2'' gene. SLC19A2 is a thiamine transporter. Mutations in this gene cause thiamin ...

'' gene.

Diagnosis

Treatment

Treatment consists of high doses of oral thiamine. Treatment can delay the onset of diabetes mellitus, and reverses anemia. If treatment is initiated early, thiamine deficiency can be prevented.

History

The condition was first described in 1969 by Dr. Lon E. Rogers, a pediatric hematologist in Dallas, Texas.

References

External links

{{Medical resources , ICD10 = {{ICD10, D53.1 , ICD9 = , ICDO = , OMIM = 249270 , DiseasesDB = , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeSH = , GeneReviewsNBK = , GeneReviewsName = , Orphanet = 49827 Autosomal recessive disorders