Hyperphenylalaninemia, Mild, Non-bh4-deficient; Hpanbh4
Description
Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by Anikster et al., 2017).
Genes related to Hyperphenylalaninemia, Mild, Non-bh4-deficient; Hpanbh4
- DNAJC12
Clinical Features
Top most frequent phenotypes and symptoms related to Hyperphenylalaninemia, Mild, Non-bh4-deficient; Hpanbh4
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Nystagmus
- Delayed speech and language development
- Hypertonia
- Intellectual disability, mild
- Dystonia
- Obesity
Incidence and onset information
— Not enough data available about incidence and published cases.
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Hyperphenylalaninemia, Mild, Non-bh4-deficient; Hpanbh4 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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DNAJC12 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
DNAJC12
Specificity
100 %
Genes
100 % |
Dystonia Exome Panel.
By Genetic Services Laboratory University of Chicago in United States.
AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)
View the complete list with 150 more genes
Specificity
1 %
Genes
100 % |
Hyperphenylalaninemia via the DNAJC12 Gene.
By PreventionGenetics PreventionGenetics in United States.
DNAJC12
Specificity
100 %
Genes
100 % |
Hyperphenylalaninemia, mild, non-BH4-deficient (DNAJC12 gene).
By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.
DNAJC12
Specificity
100 %
Genes
100 % |
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