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Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China.

Yang L, Yin H, Yang R, Huang X - Med. Sci. Monit. (2011)

Bottom Line: Glutaric aciduria type I (GA I; MIM 231670) is a rare autosomal recessive disorder resulting from glutaryl-CoA dehydrogenase deficiency.Tandem mass spectrometry and gas chromatography-mass spectrometry were used for diagnosis of the patients.Dietary modification, carnitine supplementation and aggressive treatment of intercurrent illnesses were adapted for GA I patients.

View Article: PubMed Central - PubMed

Affiliation: Laboratory Center, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.

ABSTRACT

Background: Glutaric aciduria type I (GA I; MIM 231670) is a rare autosomal recessive disorder resulting from glutaryl-CoA dehydrogenase deficiency. This article reports our experience in the diagnosis, treatment and outcome of GA I patients in Zhejiang Province, China.

Material/methods: A total of 129,415 newborns (accounting for approximately one-tenth of the annual births in Zhejiang Province) and 9640 high-risk infants were screened for inborn errors of metabolism in the Neonatal Screening Center of Zhejiang Province during a 3-year period. Tandem mass spectrometry and gas chromatography-mass spectrometry were used for diagnosis of the patients. Dietary modification, carnitine supplementation and aggressive treatment of intercurrent illnesses were adapted for GA I patients.

Results: Three infants were diagnosed with GA I by high-risk screening (detection rate: 1/3,213) and 2 were diagnosed by newborn screening (incidence: 1/64,708). Four patients (3 by high-risk screening and 1 by neonatal screening) undergoing MRI examination showed remarkable changes on T2-weighted image. Four patients accepted timely treatment, and in the patient diagnosed by neonatal screening, treatment was delayed until hypotonia appeared 3 months later. Neuropsychological assessment showed mental and motor retardation in 3 patients after treatment, including the patient diagnosed by neonatal screening.

Conclusions: Individualized timely treatment and close monitoring of GA I patients needs to be optimized in China. Appropriate communication with parents may help to achieve successful management of GA I patients.

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Related in: MedlinePlus

(A) Case 1, T2-weighted MRI at 4 months of age showed widened bilateral ventricles, temporal atrophy, abnormal high signals in the frontal lobe, abnormal high signals and cystic lesions in the bilateral parietal and occipital lobes. (B) Case 2, T2-weighted MRI at 30 months of age revealed obvious temporal lobe atrophy and abnormal high signals in the lentiform nucleus, widened sylvian fissures (characteristic bat wings appearance). (C) Case 3, T2-weighted MRI at 27 months of age. Multi patching signals in the white matter and frontotemporal atrophy and widened sylvian fissures (characteristic bat wings appearance). (D) Case 4, T2-weighted high signals in the right basal ganglia, frontotemporal atrophy and high signals in the left basal ganglia lentiform nucleus at 8 months of age.
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f1-medscimonit-17-7-ph55: (A) Case 1, T2-weighted MRI at 4 months of age showed widened bilateral ventricles, temporal atrophy, abnormal high signals in the frontal lobe, abnormal high signals and cystic lesions in the bilateral parietal and occipital lobes. (B) Case 2, T2-weighted MRI at 30 months of age revealed obvious temporal lobe atrophy and abnormal high signals in the lentiform nucleus, widened sylvian fissures (characteristic bat wings appearance). (C) Case 3, T2-weighted MRI at 27 months of age. Multi patching signals in the white matter and frontotemporal atrophy and widened sylvian fissures (characteristic bat wings appearance). (D) Case 4, T2-weighted high signals in the right basal ganglia, frontotemporal atrophy and high signals in the left basal ganglia lentiform nucleus at 8 months of age.

Mentions: Case 1 is a girl born at 35 weeks of gestational age. Her head circumference was 48 cm (>97 centile) at 4 months of age, and she had very mild hypotonia of the lower limbs. Her serum C5DC level was 0.42 μmol/L (cut-off, 0.03–0.14 μmol/L), urine 3-OH-GA level 21.98 mg/g creatinine (cut-off value: 0 mg/g creatinine), and GA level 1933.98 mg/g creatinine. The patient was followed clinically, but she showed poor treatment adherence. Persistent macrocephaly since birth was found and hypotonia resolved during 2 years of observation. Cranial MRI at 28 months of age showed widened bilateral ventricles, temporal atrophy, abnormal high signals in the frontal lobe, abnormal high signals and cystic lesions in the bilateral parietal and occipital lobes on T2-weighted image (Figure 1A). Physical and mental development (Bayley-I: MDI=88, PDI=85) were all normal at the last observation at 28 months of age.


Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China.

Yang L, Yin H, Yang R, Huang X - Med. Sci. Monit. (2011)

(A) Case 1, T2-weighted MRI at 4 months of age showed widened bilateral ventricles, temporal atrophy, abnormal high signals in the frontal lobe, abnormal high signals and cystic lesions in the bilateral parietal and occipital lobes. (B) Case 2, T2-weighted MRI at 30 months of age revealed obvious temporal lobe atrophy and abnormal high signals in the lentiform nucleus, widened sylvian fissures (characteristic bat wings appearance). (C) Case 3, T2-weighted MRI at 27 months of age. Multi patching signals in the white matter and frontotemporal atrophy and widened sylvian fissures (characteristic bat wings appearance). (D) Case 4, T2-weighted high signals in the right basal ganglia, frontotemporal atrophy and high signals in the left basal ganglia lentiform nucleus at 8 months of age.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3539576&req=5

f1-medscimonit-17-7-ph55: (A) Case 1, T2-weighted MRI at 4 months of age showed widened bilateral ventricles, temporal atrophy, abnormal high signals in the frontal lobe, abnormal high signals and cystic lesions in the bilateral parietal and occipital lobes. (B) Case 2, T2-weighted MRI at 30 months of age revealed obvious temporal lobe atrophy and abnormal high signals in the lentiform nucleus, widened sylvian fissures (characteristic bat wings appearance). (C) Case 3, T2-weighted MRI at 27 months of age. Multi patching signals in the white matter and frontotemporal atrophy and widened sylvian fissures (characteristic bat wings appearance). (D) Case 4, T2-weighted high signals in the right basal ganglia, frontotemporal atrophy and high signals in the left basal ganglia lentiform nucleus at 8 months of age.
Mentions: Case 1 is a girl born at 35 weeks of gestational age. Her head circumference was 48 cm (>97 centile) at 4 months of age, and she had very mild hypotonia of the lower limbs. Her serum C5DC level was 0.42 μmol/L (cut-off, 0.03–0.14 μmol/L), urine 3-OH-GA level 21.98 mg/g creatinine (cut-off value: 0 mg/g creatinine), and GA level 1933.98 mg/g creatinine. The patient was followed clinically, but she showed poor treatment adherence. Persistent macrocephaly since birth was found and hypotonia resolved during 2 years of observation. Cranial MRI at 28 months of age showed widened bilateral ventricles, temporal atrophy, abnormal high signals in the frontal lobe, abnormal high signals and cystic lesions in the bilateral parietal and occipital lobes on T2-weighted image (Figure 1A). Physical and mental development (Bayley-I: MDI=88, PDI=85) were all normal at the last observation at 28 months of age.

Bottom Line: Glutaric aciduria type I (GA I; MIM 231670) is a rare autosomal recessive disorder resulting from glutaryl-CoA dehydrogenase deficiency.Tandem mass spectrometry and gas chromatography-mass spectrometry were used for diagnosis of the patients.Dietary modification, carnitine supplementation and aggressive treatment of intercurrent illnesses were adapted for GA I patients.

View Article: PubMed Central - PubMed

Affiliation: Laboratory Center, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.

ABSTRACT

Background: Glutaric aciduria type I (GA I; MIM 231670) is a rare autosomal recessive disorder resulting from glutaryl-CoA dehydrogenase deficiency. This article reports our experience in the diagnosis, treatment and outcome of GA I patients in Zhejiang Province, China.

Material/methods: A total of 129,415 newborns (accounting for approximately one-tenth of the annual births in Zhejiang Province) and 9640 high-risk infants were screened for inborn errors of metabolism in the Neonatal Screening Center of Zhejiang Province during a 3-year period. Tandem mass spectrometry and gas chromatography-mass spectrometry were used for diagnosis of the patients. Dietary modification, carnitine supplementation and aggressive treatment of intercurrent illnesses were adapted for GA I patients.

Results: Three infants were diagnosed with GA I by high-risk screening (detection rate: 1/3,213) and 2 were diagnosed by newborn screening (incidence: 1/64,708). Four patients (3 by high-risk screening and 1 by neonatal screening) undergoing MRI examination showed remarkable changes on T2-weighted image. Four patients accepted timely treatment, and in the patient diagnosed by neonatal screening, treatment was delayed until hypotonia appeared 3 months later. Neuropsychological assessment showed mental and motor retardation in 3 patients after treatment, including the patient diagnosed by neonatal screening.

Conclusions: Individualized timely treatment and close monitoring of GA I patients needs to be optimized in China. Appropriate communication with parents may help to achieve successful management of GA I patients.

Show MeSH
Related in: MedlinePlus