• Title/Summary/Keyword: Genetic disorder

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A Newborn Case of Maple Syrup Urine Disease Type 1B Presenting with Lethargy and Central Apnea (기면과 중추성 무호흡으로 나타난 단풍시럽뇨병 Type 1B 신생아 1례)

  • Kang, Youngtae;Choi, Sung Hwan;Ko, Jung Min;Shin, Seung Han;Kim, Ee-Kyung;Kim, Han-Suk
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.2
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    • pp.43-49
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    • 2018
  • Maple syrup urine disease (MSUD, OMIM#248600) is a rare and autosomal recessively-inherited metabolic disorder that is caused by mutations in the branched-chain ${\alpha}$-ketoacid dehydrogenase (BCKDH) genes. It prevents the normal breakdown of branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, and leads to poor feeding, lethargy, abnormal movements, seizure, and death if untreated. Here, we report the case of a Korean newborn of biochemically- and genetically-confirmed MSUD manifesting lethargy and central apnea, the acute state of which was successfully treated. The molecular genetic investigation revealed two novel heterozygous mutations (p.Ala32Phefs*48 and p.Val 130Phe) in BCKDHB, and both parents were confirmed as carriers. We emphasize the importance of early diagnosis and prompt introduction of specific treatment for MSUD in life saving and prognosis.

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A Case of Pseudodeficiency in a Potential Late Onset Pompe Disease Carrier, with Double Dual Variant, Each in cis Formation (Pseudodeficiency 및 potential late onset Pompe disease 보인자로 확인된 cis형 dual variant 돌연변이 두 개를 가진 여아 1례)

  • Seung Ho, Kim;Goo Lyeon, Kim;Young Pyo, Chang;Dong Hwan, Lee
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.22 no.2
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    • pp.58-62
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    • 2022
  • Pompe disease (PD) is an autosomal recessive genetic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It is easy to hastily diagnose as patients if they have two pathogenic variants. Clinical pathologists misdiagnosed our infant and her mother as PD. Here, we report a case of pseudodeficiency in a potential late-onset Pompe disease (LOPD) carrier with a double dual variant, each in cis formation in a 3-month infant. The person who has two pathogenic variants was diagnosed as a carrier, not a patient. It was first reported in Korea. The patient had: two likely pathogenic heterozygous mutations on exon #4: c.752C>T (p.Ser251Leu), c.761C>T (p.Ser254Leu), and a heterozygous mutation on exon #12: c.1726G>A (p.Gly576Ser), also with a heterozygous mutation on exon #15: c.2065G>A (p.Glu689Lys). By presenting this case we emphasize the possibility of cis formation of genes which may cause pseudodeficiency, and potential LOPD carrier form. Hereby we suggest that thorough evaluation of GAA gene is essential among whom initially diagnosed as PD.

Lived experience of mothers who have child with cerebral palsy (뇌성마비아 어머니의 경험)

  • Lee Hwa Za;Kim Yee Soon;Lee Gee Won;Gwan Soo Za;Kang In Soon;An Hea Gyung
    • Child Health Nursing Research
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    • v.2 no.1
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    • pp.93-111
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    • 1996
  • The purpose of the study is to identify the lived experience of mothers who have children with cerebral palsy in order to understand their agony. Moreover, the result of study was to find some nursing intervention for disabled children and their mothers. For this purpose, ten mothers who are willing to cooperate with this research were selected at random from those who have children with the cerebral palsy, currently using the municipal facilities for the handicapped with cerebral malfunction. Data collection was done from October 4, 1994 th December 31, 1994. The data were collected by asking the mothers mentioned above with some unstructured open-ended questions, recorded on the tapes with permission by the interviewee in order to prevent missing of the interviewed contents. These collected data have been substantiated and properly analyzed on the basis of phenomenological approach initiated by Colaizzi's method. The results and validity are proved to be credible by means of the individual checking of the interviewed mothers. The results of this study are as follows : 1. When the mother is first informed of the diagnosis of cerebral palsy on her child, she usually misses the crucial timing needed for proper treatment of the child's disorder because she is notified through the doctor's indifference and his apparently inactive, matter-of-fact attitude. At first she suspects the doctor's diagnosis and tries to attribute it to the unknown cause from a certain genetic problem and then she quickly wants to deny the whole situation that her child is really suffering from the cerebral palsy. The reality is too much for her to accept as it is and she would not believe her child is abnormal. Therefore, she even attempts depend on the power of God for its solution. 2. The mother, who goes thorough this kind of uncommon experiences, is totally devoted to the treatment and care of the child and completely ignores her own life and happiness. At the same time, she feels sorry for her other normal children she believes having not enough care and concern. Also, she feels sorry for the sick child when the child's brothers or sisters show special concern for the patient out of sympathy. It is sorry and not satisfied for her that the child is growing with abnormality and neighbor other around have inappropriate attitudes. Likewise, she is discontent with her husband's lack of concern about the child's treatment. She believes that the health care system in this society isn't fulfilling its due purpose. In the state of her utmost distress and anxiety, she always feels the need of competent consultants, and is angry about that her child is treated as an abnormal being, she is trying to hide the child from other people and to make him or her disappear, if possible. Although she doesn't have harmonious relation with her husband, she id happy when he shows his affection for the child and she feels relieved and thankful when the relatives don't mention about the child's condition Since the child's overall status of health is continuously in unstable conditions, requiring her all-time readiness for an emergency, she feels guilty of her child's illness toward the fEmily members as if it was her own fault to have borne such an abnormal child and she feels responsible for the child morally and financially if necessary Because her life is centered on taking care of the child, she cannot afford to enjoy her own life and happiness. She is a lonely mother, fatigued, with no proper relationship with other people around her. With this sense of guilt and responsibility as a mother of an unusual disease, she has no choice but to grieve her destiny from which she is not allowed to escape. 3. Nevertheless, the mother with the child suffering from the cerebral palsy does not easily give up the hope of getting her child cured and she believes that in the long run, though slower than hoped, her abnormal son or daughter will be eventually cured to become a normal sibling someday. This kind of hope is sustained by the mother's strong faith coming from observing the progress of other similar children getting better. Sometimes she is encouraged to have this faith by other mothers who share the same painful experiences, believing that her child will improve even more rapidly than others with the same palsy. Full of hope, she painstakingly waits for the child's healing. Moreover, she plans to have another child. she thinks that the patient child's brothers and sisters only can truly understand and look after the patients. However, when she notices that the progress of other children under the treatment does not look so hopeful, she is distressed by the thoughts that her child may never get well. Too, she is worried that the patient's brother or sister will be born as the same invalid with the cerebral disease. She is discouraged to have another baby as much as she is encouraged to. She is also troubled by the thought that in case she has another baby, she will have to be forced. to neglect the patient child, especially when she does have an extra hand or some reliable person to help her with taking care of the patient.

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