Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

MONDO:0016543

Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.

Also known as: hyperphenylalaninemia, hyperphenylalaninemia due to BH4 deficiency, hyperphenylalaninemia due to tetrahydrobiopterin deficiency, non-phenylketonuric hyperphenylalaninemia

7 clinical trials for this condition and its sub-types.

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Sub-types

Dihydropteridine reductase deficiency (1) BH4-deficient hyperphenylalaninemia A (0) GTP cyclohydrolase I deficiency with hyperphenylalaninemia (0) Pterin-4 alpha-carbinolamine dehydratase 1 deficiency (0)

Broader categories

Disease (717) Metabolic disease (241) Hereditary disease (188) Inborn errors of metabolism (47) Human disease (15) Inborn disorder of amino acid metabolism (6) Autosomal recessive disease (4) Amino acid metabolism disease (2) Disease of genetic or genomic mechanism (2) Autosomal genetic disease (0)

Trials to join now! 2 Not yet recruiting 1 Not yet finished but already full! 1 Completed 3

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Sub-types

Broader categories

New fingerstick test could simplify PKU monitoring at home

French study tracks adult PKU patients to uncover hidden neurological risks

Tiny study tests special diet drink for Moms-to-Be with PKU