AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients Aromatic L‐amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurodevelopmental disorder characterized by impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin, leading to a complex syndrome of motor, behavioral, [...]

By |2020-07-06T08:26:48+01:00July 6th, 2020|

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the [...]

By |2020-07-06T08:23:40+01:00July 6th, 2020|

High Throughput Newborn Screening for Aromatic ʟ-amino-acid Decarboxylase Deficiency by Analysis of Concentrations of 3-O-methyldopa From Dried Blood Spots

High Throughput Newborn Screening for Aromatic ʟ-amino-acid Decarboxylase Deficiency by Analysis of Concentrations of 3-O-methyldopa From Dried Blood Spots Aromatic l ‐amino‐acid decarboxylase (AADC) deficiency is an inherited disorder of biogenic amine metabolism with a broad neurological phenotype. The clinical symptoms overlap with other diseases resulting [...]

By |2020-07-06T08:32:52+01:00February 14th, 2020|

Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders

Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders Introduction Inborn errors of tetrahydrobiopterin (BH4) biosynthesis or recycling are a group of very rare neurometabolic diseases. Following growing awareness and improved availability of drug treatment the number of patients with BH4 disorders reaching adulthood [...]

By |2018-10-25T15:54:31+01:00October 25th, 2018|

Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment

Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment Neurotransmitter deficiencies are rare neurological disorders with clinical onset during childhood. The disorders are caused by genetic defects in the enzymes involved in synthesis, degradation, or transport of neurotransmitters or by defects in the [...]

By |2020-07-06T08:30:09+01:00July 6th, 2018|

Consensus guideline for the diagnosis and tTreatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and [...]

By |2018-11-08T12:03:22+00:00November 8th, 2017|

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders. Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of [...]

By |2018-11-08T12:07:26+00:00December 8th, 2016|