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MICPCH is diagnosed following an MRI displaying pontocerebellar hypoplasia and positive genetic testing for a pathogenic or likely-pathogenic mutation of the CASK gene. Initial testing tends to occur following a diagnosis of microcephaly in the first year of life. A diagnostic ICD-10 code has been assigned to MICPCH: Q04.3.
The PAH gene is located on chromosome 12 in the bands 12q22-q24.2. [22] As of 2000, around 400 disease-causing mutations had been found in the PAH gene. This is an example of allelic genetic heterogeneity .
Phenylalanine hydroxylase (PAH) (EC 1.14.16.1) is an enzyme that catalyzes the hydroxylation of the aromatic side-chain of phenylalanine to generate tyrosine.PAH is one of three members of the biopterin-dependent aromatic amino acid hydroxylases, a class of monooxygenase that uses tetrahydrobiopterin (BH 4, a pteridine cofactor) and a non-heme iron for catalysis.
6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. [2] It is a recessive disorder that is accompanied by hyperphenylalaninemia.
16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability , as well as childhood-onset obesity .
The 2023 edition of ICD-10-CM F78.A1 became effective on October 1, 2022. This is the American ICD-10-CM version of F78.A1 - other international versions of ICD-10 F78.A1 may differ. On August 11, 2021, SYNGAP1 -related Disorders was included in the Social Security Administration list of diseases for Compassionate Use .
This gene has been implicated in X-linked mental retardation, [7] including specifically mental retardation and microcephaly with pontine and cerebellar hypoplasia. [8] The role of CASK in disease is primarily associated with a loss of function (under expression) of the CASK gene as a result of a deletion, missense or splice mutation. [9]
In terms of genetic testing, while it is done for type 1 of this condition, type 2 will only render (or identify) those genes which place the individual at higher risk. [11] Other methods/exam to ascertain if an individual has autoimmune polyendocrine syndrome type 2 are: [3] CT scan; MRI; Ultrasound