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).

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
And another 7 symptoms. If you need more information about this disease we can help you.
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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
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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