Treatment and outcome of Taiwanese patients with 6‐pyruvoyltetrahydropterin synthase gene mutations

Abstract

Ten cases of tetrahydrobiopterin (BH4) deficiency were identified in 1,337,490 newborns screened in a Chinese population in Taiwan. The high incidence of BH4 deficiency in the Taiwanese population may be explained by a founder effect, since all of the patients revealed 6-pyruvoyltetrahydropterin synthase gene mutations, and grouping N52S and P87S mutations together constituted 88.9% of the disease alleles. BH4 supplementation with restriction of high-protein foods gave control of plasma phenylalanine within normal range, and levodopa itself prevented seizure. However, the average intelligence quotient (IQ) score of these patients was only 76 +/- 14 (56-98). Statistically, the age of starting medication, including 5-hydroxytryptophan (5-HTP), was inversely correlated to IQ scores of these patients. We suggest the combination of BH4, levodopa and 5-HTP as the standard protocol to commence the treatment of BH4 deficiency as early as possible, although prenatal brain damage could have existed.

Disorders of Tetrahydrobiopterin Metabolism: Experience from South India

“…Imaging changes are commonly described in patients with DHPR and PTPS de ciency. Similar to our cohort, the imaging ndings described include delayed myelination, signal changes in parieto-occipital white matter, cerebral atrophy and central tegmental tract (CTT) hyperintensities [21,22] . Intracranial calci cations like in our Patient-6 with DHPR de ciency, mainly in basal ganglia and subcortical regions have been previously described in patients with DHPR de ciency and in only one patient with PTPS de ciency [23].…”

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan

“…Disorders of BH 4 metabolism account for only 1% to 2% of patients with HPA in Europeans, 19 whereas they are more common in some other ethnic groups. For example, BH 4 deficiency accounts for more than 10% of all HPA patients in some countries in East Asia, including Taiwan, Mainland China, Japan, South Korea, the Philippines, Thailand and Malaysia, 20 reaching up to one‐third of cases in some reports 21 . The current study also demonstrates a relatively frequent occurrence of BH 4 deficiency in Jordan.…”

Subsidence of hypertension in a patient with giant hydronephrosis who underwent nephrectomy: A case report and mini-literature review of ureteropelvic junction obstruction

“…4 Regardless of the option chosen, a staged surgical approach with slow decompression, as in the case of a preoperative PCN, was suggested because of the potential cardiopulmonary collapse that might occur due to a sudden decrease in the intraabdominal pressure.…”

“…Primary UPJO is more likely due to an intrinsic abnormality of collagen or muscles, 3 while the causes of secondary UPJO, which is less common, include iatrogenicity, inflammation, or malignancy. 4 …”