Related Experiment Video

Updated: Nov 28, 2025

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

13.4K

Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening

Kenji Yamada1, Kazunori Yokoyama2, Kikumaro Aoki2

  • 1Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, En-ya-cho, Izumo, Shimane 693-8501, Japan.

International Journal of Neonatal Screening
|November 26, 2020
PubMed

Insights

Newborn screening for homocystinuria (HCU) in Japan leads to better outcomes. Patients detected early show fewer symptoms and improved social and intellectual development compared to those diagnosed later.

Area of Science:

  • Metabolic Disorders
  • Genetics
  • Public Health

Background:

  • Homocystinuria (HCU) is a rare inherited metabolic disorder.
  • Newborn screening (NBS) for HCU, caused by cystathionine β-synthase deficiency, began in Japan in 1977.
  • This study compares outcomes of HCU patients detected via NBS versus clinical diagnosis.

Purpose of the Study:

  • To compare clinical and social outcomes of adult HCU patients identified through NBS versus those diagnosed clinically.
  • To evaluate the long-term impact of early detection and treatment of HCU.

Main Methods:

  • A questionnaire was administered to physicians treating 19 adult HCU patients on methionine-free diets.
  • Data collected focused on clinical symptoms and social conditions.
  • Eighteen patients (9 NBS, 9 non-NBS) participated.

Main Results:

  • The NBS group had significantly lower frequencies of ocular, vascular, central nervous system, and skeletal symptoms.
  • Intellectual disability was less common in the NBS group (1/9) compared to the non-NBS group (8/9).
  • All NBS patients were employed or in school, contrasting with only 2 non-NBS patients.

Conclusions:

  • Early detection of HCU through NBS in Japan is associated with favorable social and intellectual outcomes in adulthood.
  • Continuous treatment is crucial, as some symptoms may persist or develop even with early detection if treatment is discontinued.
Abstract

Keywords:
cystathionine β-synthase deficiencyhomocystinurialong-term outcomemethioninenewborn screeningsocial outcomevitamin B6

More Related Videos

A Mouse Model to Evaluate the Long-Term Structural and Functional Outcomes after the Reversal of Prolonged Unilateral Ureteric Obstruction05:34

A Mouse Model to Evaluate the Long-Term Structural and Functional Outcomes after the Reversal of Prolonged Unilateral Ureteric Obstruction

Published on: July 18, 2025

336
Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes03:19

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes

Published on: June 28, 2024

616

Related Concept Videos

Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
93
Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers01:19

Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers

Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
369
Acute Kidney Injury III: Clinical Manifestations01:29

Acute Kidney Injury III: Clinical Manifestations

Acute Kidney Injury (AKI) progresses through distinct clinical phases: the oliguric, diuretic, and recovery phases, each marked by unique manifestations and challenges.Oliguric Phase:The oliguric phase is the initial stage of AKI, typically lasting 10 to 14 days. This phase is marked by a significant reduction in urine output, usually less than 400 mL per day, indicating decreased kidney function. Fluid retention is a prominent feature, leading to symptoms such as edema, hypertension, and...
485
Kidney Transplant II: Surgical Procedure01:26

Kidney Transplant II: Surgical Procedure

Preoperative ManagementThe primary goals of preoperative management in kidney transplantation are to optimize the patient’s metabolic state and prepare them for surgery through diet adjustments, necessary dialysis, and tailored medical treatment. This phase also involves comprehensive infection screening and patient education about the surgical procedure and postoperative care to improve outcomes and adherence.Medical ManagementA comprehensive evaluation is required for both the living...
170
Pharmacokinetics in Pediatric Patients: Drug Excretion01:26

Pharmacokinetics in Pediatric Patients: Drug Excretion

In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...
117
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
578