Aicar Transformylase/imp Cyclohydrolase Deficiency

What is Aicar Transformylase/imp Cyclohydrolase Deficiency?

Aicar Transformylase/imp Cyclohydrolase Deficiency is a rare disease. It is also known as Aica-ribosuria Due To Atic Deficiency Atic Deficiency.

A 4 year-old girl reported by Marie et al., (2004), had profound mental retardation and was blind. She had seizures and was dysmorphic (high forehead, wide mouth with thin upper lip, low-set ears, high nasal bridge, anteverted nostrils and a prominent clitoris due to fused labia). She was floppy and hypoglycemic. At 12 months she was noted to have bilateral atrophic pigmented chorioretinal macular lesions. She had abnormal ERGs and VERs. Results or routine biochemistry including organic and aminoacids were normal, but the Bratton-Marshall test was positive suggesting an accumulation of SAICA-riboside which was also present in the urine (see also under ADSL). Chromatography revealed a peak which was AICA-riboside, an intermediate of the de novo purine biosynthetic pathway. It is formed by the dephosphorylation of AICAR. Sequencing of the gene showed a compound heterozygote mutation.

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* This information is courtesy of the L M D.

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What gene changes cause Aicar Transformylase/imp Cyclohydrolase Deficiency?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 608688 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
ATIC - 2q35

What are the main symptoms of Aicar Transformylase/imp Cyclohydrolase Deficiency?

The typical symptoms of the syndrome are:
Thin upper lip vermilion, Frontal bossing, Prominent forehead, Wide mouth, Seizure, Autosomal recessive inheritance, Optic atrophy, Muscular hypotonia, Low-set ears, Abnormality of metabolism/homeostasis, Intellectual disability, profound, Anteverted nares, Atrial septal defect, Brachycephaly, Fused labia minora, Prominent nasal bridge, Abnormality of the skin, Clitoromegaly, Congenital blindness

How does someone get tested for Aicar Transformylase/imp Cyclohydrolase Deficiency?

The initial testing for Aicar Transformylase/imp Cyclohydrolase Deficiency can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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